BTHLM1
MCID: BTH005
MIFTS: 56

Bethlem Myopathy 1 (BTHLM1)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Bethlem Myopathy 1

MalaCards integrated aliases for Bethlem Myopathy 1:

Name: Bethlem Myopathy 1 57 74 29 6
Bethlem Myopathy 57 12 75 53 59 74 37 29 13 55 15 72
Myopathy, Benign Congenital, with Contractures 57 53 74
Muscular Dystrophy, Benign Congenital 57 53 74
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 5 57 74
Bthlm1 57 74
Lgmdd5 57 74
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 5; Lgmdd5 57
Benign Congenital Muscular Dystrophy 12
Benign Autosomal Dominant Myopathy 59
Myopathy, Bethlem, Type 1 40
Myopathy, Bethlem 40

Characteristics:

Orphanet epidemiological data:

59
bethlem myopathy
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Childhood,Infancy; Age of death: normal life expectancy;

OMIM:

57
Miscellaneous:
slow progression
variable severity
onset usually in early childhood, although ranges from birth to adulthood
approximately half of patients need ambulatory support after the fifth decade
ullrich congenital muscular dystrophy () is an allelic disorder with autosomal recessive inheritance and a more severe phenotype

Inheritance:
autosomal recessive
autosomal dominant


HPO:

32

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050663
KEGG 37 H01340
MeSH 44 D009136
MESH via Orphanet 45 C535436
ICD10 via Orphanet 34 G71.0
UMLS via Orphanet 73 C1834674
Orphanet 59 ORPHA610
MedGen 42 C1834674
UMLS 72 C1834674

Summaries for Bethlem Myopathy 1

NIH Rare Diseases : 53 Bethlem myopathy is a rare disease affecting the skeletal muscles and connective tissue. The disease is characterized by slowly progressive muscle weakness and joint stiffness (contractures). It most often affects the fingers, wrists, elbows, and ankles. Signs and symptoms may begin before birth (with decreased fetal movements), shortly after birth (with low muscle tone or torticollis), in early childhood (with delayed motor skills, muscle weakness, and contractures), or in adulthood (with weakness, Achilles tendon, or finger contractures). Due to the disease's progression, most people with Bethlem myopathy over age 50 require mobility aids (such as a cane, crutches, or wheelchair) for outdoor mobility. Rarely, severe muscle weakness may lead to respiratory difficulties in later life. Bethlem myopathy is caused by mutations (changes) in the COL6A1, COL6A2, or COL6A3 genes. Most cases are inherited in an autosomal dominant manner, but in rare cases the disease is autosomal recessive. The diagnosis is based on clinical examination and laboratory tests, but genetic testing may confirm the diagnosis. Treatment depends on individual symptoms but routinely involves physical therapy. Surgery to correct joint contractures may be needed.

MalaCards based summary : Bethlem Myopathy 1, also known as bethlem myopathy, is related to collagen vi-related myopathy and myopathy, congenital. An important gene associated with Bethlem Myopathy 1 is COL6A1 (Collagen Type VI Alpha 1 Chain), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Focal adhesion. Affiliated tissues include testes, skeletal muscle and skin, and related phenotypes are joint stiffness and emg abnormality

Disease Ontology : 12 A congenital muscular dystrophy that is characterized by myopathy and joint contractures that progresses slowly, has material basis in autosomal dominant inheritance of heterozygous mutation in the COL6A1 gene, the COL6A2 gene, or the COL6A3 gene.

KEGG : 37
Bethlem myopathy is one of the collagen VI myopathies, caused by mutation of COL6A. Bethlem myopathy is usually inherited in an autosomal dominant manner, but a rare autosomal recessive inheritance has recently been reported. This disease is characterized by a combination of proximal muscle weakness and contractures of finger, elbow, and ankle joints.

UniProtKB/Swiss-Prot : 74 Bethlem myopathy 1: A benign proximal myopathy characterized by early childhood onset and joint contractures most frequently affecting the elbows and ankles.

Wikipedia : 75 Bethlem myopathy is an autosomal dominant myopathy, classified as a congenital form of muscular... more...

More information from OMIM: 158810 PS158810 PS603511

Related Diseases for Bethlem Myopathy 1

Diseases in the Bethlem Myopathy 1 family:

Bethlem Myopathy 2

Diseases related to Bethlem Myopathy 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 62, show less)
# Related Disease Score Top Affiliating Genes
1 collagen vi-related myopathy 33.4 COL6A3 COL6A2 COL6A1
2 myopathy, congenital 30.3 SELENON DYSF DMD
3 ullrich congenital muscular dystrophy 1 30.2 LMNA COL6A5 COL6A3 COL6A2 COL6A1 COL12A1
4 muscular dystrophy, becker type 30.2 DYSF DMD
5 myopathy, proximal, and ophthalmoplegia 30.1 LMNA COL6A2 COL6A1
6 myopathy 29.9 SELENON DYSF COL6A3 COL6A2 COL6A1 CAPN3
7 limb-girdle muscular dystrophy 29.0 LMNA DYSF DMD CAPN3
8 muscular dystrophy, congenital, lmna-related 28.8 SELENON LMNA DMD COL6A3 COL6A2 COL6A1
9 muscular dystrophy 26.2 SELENON LMNA GMPPB DYSF DMD COL6A3
10 muscular disease 26.1 SELENON LMNA GMPPB DYSF DMD COL6A3
11 bethlem myopathy 2 12.8
12 collagen vi related muscular dystrophy 11.5
13 ullrich congenital muscular dystrophy 2 11.4
14 collagen type vi-related disorders 10.8
15 keloid formation 10.3
16 muscular dystrophy, duchenne type 10.3
17 helix syndrome 10.3
18 muscular atrophy 10.3
19 keloid disorder 10.3
20 benign autosomal dominant myopathy 10.3
21 localized lipodystrophy 10.2 DYSF DMD
22 muscular dystrophy, limb-girdle, autosomal recessive 1 10.1
23 myosclerosis, autosomal recessive 10.1
24 muscle hypertrophy 10.1
25 hypertrophic scars 10.1
26 scoliosis 10.1
27 ptosis 10.1
28 autosomal dominant limb-girdle muscular dystrophy 10.1
29 respiratory failure 10.1
30 keratosis 10.1
31 hypertrophic cardiomyopathy 10.1
32 congenital contractures 10.1
33 limb-girdle muscular dystrophy type 1a 10.1
34 hypotonia 10.1
35 polyglucosan body myopathy 1 with or without immunodeficiency 10.1 DMD CAPN3
36 isolated hyperckemia 10.1 DMD CAPN3
37 stormorken syndrome 10.0 DYSF DMD
38 muscular dystrophy-dystroglycanopathy 10.0 GMPPB B3GALNT2
39 torticollis 10.0
40 autosomal recessive limb-girdle muscular dystrophy type 2g 10.0 DYSF CAPN3
41 autosomal recessive limb-girdle muscular dystrophy type 2f 10.0 DYSF CAPN3
42 autosomal recessive limb-girdle muscular dystrophy type 2d 9.9 DYSF CAPN3
43 autosomal recessive limb-girdle muscular dystrophy type 2a 9.9 DYSF CAPN3
44 muscular dystrophy, limb-girdle, autosomal recessive 8 9.9 DYSF CAPN3
45 dysferlinopathy 9.9 DYSF CAPN3
46 muscular dystrophy-dystroglycanopathy , type c, 5 9.8 DYSF CAPN3
47 walker-warburg syndrome 9.8 GMPPB DMD B3GALNT2
48 cardiomyopathy, dilated, 1a 9.8 LMNA DMD
49 emery-dreifuss muscular dystrophy 2, autosomal dominant 9.7 LMNA COL6A2
50 autosomal recessive limb-girdle muscular dystrophy 9.7 DYSF DMD CAPN3
51 autosomal recessive limb-girdle muscular dystrophy type 2c 9.7 DYSF DMD CAPN3
52 autosomal recessive limb-girdle muscular dystrophy type 2b 9.7 DYSF DMD CAPN3
53 muscular dystrophy, limb-girdle, autosomal recessive 7 9.7 DYSF DMD CAPN3
54 muscular dystrophy, limb-girdle, autosomal recessive 6 9.7 DYSF DMD CAPN3
55 miyoshi muscular dystrophy 9.7 DYSF DMD CAPN3
56 myositis 9.6 DYSF DMD CAPN3
57 rigid spine muscular dystrophy 1 9.6 SELENON DYSF DMD COL6A2
58 muscular dystrophy, congenital merosin-deficient, 1a 9.6 LMNA DMD B3GALNT2
59 muscular dystrophy-dystroglycanopathy , type b, 5 9.5 LMNA DMD
60 intrinsic cardiomyopathy 9.4 LMNA DMD
61 congenital fiber-type disproportion 9.1 SELENON LMNA DYSF DMD
62 muscle tissue disease 8.7 LMNA DYSF DMD COL6A1 CAPN3

Graphical network of the top 20 diseases related to Bethlem Myopathy 1:



Diseases related to Bethlem Myopathy 1

Symptoms & Phenotypes for Bethlem Myopathy 1

Human phenotypes related to Bethlem Myopathy 1:

59 32 (showing 26, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001387
2 emg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0003457
3 cachexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0004326
4 camptodactyly of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0100490
5 progressive proximal muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0009073
6 neonatal hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001319
7 joint laxity 59 32 frequent (33%) Frequent (79-30%) HP:0001388
8 multiple joint contractures 59 32 frequent (33%) Frequent (79-30%) HP:0002828
9 muscular dystrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003560
10 torticollis 59 32 frequent (33%) Frequent (79-30%) HP:0000473
11 proximal amyotrophy 59 32 frequent (33%) Frequent (79-30%) HP:0007126
12 ankle flexion contracture 32 frequent (33%) HP:0006466
13 follicular hyperkeratosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0007502
14 myopathy 32 HP:0003198
15 abnormality of the cardiovascular system 32 HP:0001626
16 respiratory insufficiency due to muscle weakness 32 HP:0002747
17 skeletal muscle atrophy 32 HP:0003202
18 elbow flexion contracture 32 HP:0002987
19 motor delay 32 HP:0001270
20 decreased fetal movement 32 HP:0001558
21 proximal muscle weakness 32 HP:0003701
22 limb-girdle muscle weakness 32 HP:0003325
23 congenital muscular torticollis 32 HP:0005988
24 ankle contracture 59 Frequent (79-30%)
25 distal muscle weakness 32 HP:0002460
26 elevated serum creatine kinase 32 HP:0003236

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
delayed motor milestones
muscle weakness, limb-girdle
proximal muscle weakness more severe than distal muscle weakness
extensor muscle weakness more severe than flexor muscle weakness
muscle atrophy, mild, more proximal than distal
more
Cardiovascular Heart:
no cardiac involvement

Skeletal:
contractures

Skeletal Hands:
long finger flexion contractures of the last four fingers

Laboratory Abnormalities:
normal or increased serum creatine kinase

Head And Neck Neck:
torticollis, congenital

Respiratory:
respiratory failure due to muscle weakness may occur in late stages

Skeletal Limbs:
contractures of the elbows
contractures of the ankles

Prenatal Manifestations Movement:
decreased fetal movements may occur

Clinical features from OMIM:

158810

MGI Mouse Phenotypes related to Bethlem Myopathy 1:

46 (showing 1, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.23 CAPN3 COL12A1 COL6A1 COL6A3 DMD DYSF

Drugs & Therapeutics for Bethlem Myopathy 1

Interventional clinical trials:

(showing 4, show less)
# Name Status NCT ID Phase Drugs
1 Low Protein Diet to Correct Defective Autophagy in Patients With Collagen VI Related Myopathies Completed NCT01438788 Phase 2
2 The Effect of a Bike Ergometer Training Program in Patients With Bethlem Myopathy Completed NCT01895283
3 MR in Patients With Neuromuscular Diseases Recruiting NCT03693898
4 Global Registry for COL6-related Dystrophies Recruiting NCT04020159

Search NIH Clinical Center for Bethlem Myopathy 1

Genetic Tests for Bethlem Myopathy 1

Genetic tests related to Bethlem Myopathy 1:

# Genetic test Affiliating Genes
1 Bethlem Myopathy 1 29 COL6A1 COL6A2 COL6A3
2 Bethlem Myopathy 29

Anatomical Context for Bethlem Myopathy 1

MalaCards organs/tissues related to Bethlem Myopathy 1:

41
Testes, Skeletal Muscle, Skin, Heart, Bone, Endothelial

Publications for Bethlem Myopathy 1

Articles related to Bethlem Myopathy 1:

(showing 174, show less)
# Title Authors PMID Year
1
Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy. 9 38 8 71
15955946 2005
2
Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathy. 9 38 8 71
11932968 2002
3
Molecular consequences of dominant Bethlem myopathy collagen VI mutations. 38 8 71
17886299 2007
4
Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures. 38 8 71
8782832 1996
5
Bethlem myopathy: early-onset benign autosomal dominant myopathy with contractures. Description of two new families. 38 8 71
7881296 1994
6
Collagen VI related muscle disorders. 9 38 8
16141002 2005
7
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. 9 38 8
15689448 2005
8
New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype. 9 38 71
12840783 2003
9
Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. 9 38 71
11865138 2002
10
Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency. 9 38 71
9580662 1998
11
Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy. 9 38 71
9536084 1998
12
Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37. 9 38 8
8817344 1996
13
Genetic localization of Bethlem myopathy. 9 38 8
8618682 1996
14
Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy. 38 71
24334769 2014
15
Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies. 38 8
24038877 2013
16
Oxidative stress by monoamine oxidases is causally involved in myofiber damage in muscular dystrophy. 38 8
20716577 2010
17
Early onset collagen VI myopathies: Genetic and clinical correlations. 38 8
20976770 2010
18
Autosomal recessive Bethlem myopathy. 38 8
19949035 2009
19
Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies. 38 8
18362356 2008
20
A refined diagnostic algorithm for Bethlem myopathy. 38 8
18378883 2008
21
Collagen Type VI-Related Disorders 38 71
20301676 2004
22
Bethlem myopathy and engineered collagen VI triple helical deletions prevent intracellular multimer assembly and protein secretion. 38 71
10419498 1999
23
A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the alpha1(VI) collagen chain in an italian family affected by bethlem myopathy. 38 71
10329467 1999
24
Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures. 38 8
10219778 1999
25
Respiratory muscle involvement in Bethlem myopathy. 38 8
9921869 1999
26
Type VI collagen anchors endothelial basement membranes by interacting with type IV collagen. 38 71
9334230 1997
27
Bethlem myopathy is not allelic to limb-girdle muscular dystrophy type 1A. 38 8
8533815 1995
28
Early-onset benign autosomal dominant limb-girdle myopathy with contractures (Bethlem myopathy). 38 8
3352914 1988
29
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. 8
30055862 2018
30
Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice. 71
24334604 2014
31
Consensus statement on standard of care for congenital muscular dystrophies. 71
21078917 2010
32
Congenital Muscular Dystrophy Overview 71
20301468 2001
33
Early onset muscular dystrophy with autosomal dominant heredity. Report of a family and CT findings of skeletal muscle. 8
7892962 1994
34
Protein truncation test (PTT) for rapid detection of translation-terminating mutations. 71
8268929 1993
35
Benign congenital muscular dystrophy with autosomal dominant heredity: problems of classification. 8
3585421 1987
36
An autosomal dominant type of congenital muscular dystrophy. 8
3799922 1986
37
Further investigations on benign myopathy with autosomal dominant inheritance. 8
75955 1978
38
Benign myopathy, with autosomal dominant inheritance. A report on three pedigrees. 8
963533 1976
39
Autosomal recessive inheritance of classic Bethlem myopathy. 9 38
19884007 2009
40
An enhancer required for transcription of the Col6a1 gene in muscle connective tissue is induced by signals released from muscle cells. 9 38
18761340 2008
41
Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance. 9 38
18366090 2008
42
Variable penetrance of COL6A1 null mutations: implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families. 9 38
17537636 2007
43
[Collagenopathy (Ullrich congenital muscular dystrophy, Bethlem myopathy)]. 9 38
16447767 2005
44
Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. 9 38
15563506 2005
45
Muscle MRI findings in a three-generation family affected by Bethlem myopathy. 9 38
12401455 2002
46
Decreased expression of laminin beta 1 in chromosome 21-linked Bethlem myopathy. 9 38
10407855 1999
47
A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen. 9 38
10399756 1999
48
Moderate-intensity aerobic exercise improves physical fitness in bethlem myopathy. 38
31026058 2019
49
Role of adiponectin in the metabolism of skeletal muscles in collagen VI-related myopathies. 38
30927046 2019
50
Bethlem myopathy: a series of 16 patients and description of seven new associated mutations. 38
30706156 2019
51
COL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report. 38
30808312 2019
52
[Clinical manifestations and genetics analysis of collagen type Ⅵ-related myopathy caused by variants in COL6A3 gene]. 38
30695889 2019
53
Collagen VI disorders: Insights on form and function in the extracellular matrix and beyond. 38
29277723 2018
54
Two novel COL6A3 mutations disrupt extracellular matrix formation and lead to myopathy from Ullrich congenital muscular dystrophy and Bethlem myopathy spectrum. 38
29894794 2018
55
Collagen XII myopathy with rectus femoris atrophy and collagen XII retention in fibroblasts. 38
29342313 2018
56
Genetic and clinical findings in a Chinese cohort of patients with collagen VI-related myopathies. 38
29419890 2018
57
[Collagen VI related myopathies. When to suspect, how to identify. The contribution of muscle magnetic resonance]. 38
29999148 2018
58
Spontaneous Keloids: A Literature Review. 38
30114700 2018
59
Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders. 38
28760337 2017
60
Clinical, Pathologic, and Genetic Features of Collagen VI-Related Myopathy in Korea. 38
28831785 2017
61
Gapmer Antisense Oligonucleotides Suppress the Mutant Allele of COL6A3 and Restore Functional Protein in Ullrich Muscular Dystrophy. 38
28918041 2017
62
Bethlem myopathy in a Portuguese patient - case report. 38
29774307 2017
63
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period. 38
28688748 2017
64
Pneumothoraces in collagen VI-related dystrophy: a case series and recommendations for management. 38
28660205 2017
65
Keloids, Spontaneous or After Minor Skin Injury: Importance of Not Missing Bethlem Myopathy. 38
27563703 2017
66
Facial weakness and eyelid ptosis: Expanding the clinical heterogeneity of Bethlem myopathy from a novel gene mutation. 38
27421963 2017
67
A novel de novo COL6A1 mutation emphasizes the role of intron 14 donor splice site defects as a cause of moderate-progressive form of ColVI myopathy - a case report and review of the genotype-phenotype correlation. 38
28984114 2017
68
Differences in Adipose Tissue and Lean Mass Distribution in Patients with Collagen VI Related Myopathies Are Associated with Disease Severity and Physical Ability. 38
28848425 2017
69
Transcriptome profiling identifies regulators of pathogenesis in collagen VI related muscular dystrophy. 38
29244830 2017
70
Autophagy activation in COL6 myopathic patients by a low-protein-diet pilot trial. 38
27656840 2016
71
"Target" and "Sandwich" Signs in Thigh Muscles have High Diagnostic Values for Collagen VI-related Myopathies. 38
27453230 2016
72
Rare disease clinical trials: Power in numbers. 38
27540592 2016
73
Collagens VI and XII form complexes mediating osteoblast interactions during osteogenesis. 38
26753503 2016
74
Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum. 38
27854213 2016
75
Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy. 38
26945058 2016
76
Tendon Extracellular Matrix Alterations in Ullrich Congenital Muscular Dystrophy. 38
27375477 2016
77
Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution. 38
25535305 2015
78
A Nonsense Variant in COL6A1 in Landseer Dogs with Muscular Dystrophy. 38
26438297 2015
79
[Application of targeted capture technology and next generation sequencing in molecular diagnosis of inherited myopathy]. 38
26758109 2015
80
Molecular Genetic Diagnosis of a Bethlem Myopathy Family with an Autosomal-Dominant COL6A1 Mutation, as Evidenced by Exome Sequencing. 38
25749816 2015
81
Detecting collagen VI in Bethlem myopathy. 38
25795730 2015
82
Reply to Sabatelli et al.: Detecting collagen VI in Bethlem myopathy. 38
25964954 2015
83
Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI α2(VI) chain. 38
25533456 2015
84
A TALEN-Exon Skipping Design for a Bethlem Myopathy Model in Zebrafish. 38
26221953 2015
85
Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability. 38
25204870 2015
86
[Study of a Bethlem myopathy pedigree resulted from a novel mutation of COL6A3 gene]. 38
25449070 2014
87
Muscle proteomics reveals novel insights into the pathophysiological mechanisms of collagen VI myopathies. 38
25211533 2014
88
NIM811, a cyclophilin inhibitor without immunosuppressive activity, is beneficial in collagen VI congenital muscular dystrophy models. 38
24852368 2014
89
Muscle magnetic resonance imaging of the lower limbs: valuable diagnostic tool in the investigation of childhood neuromuscular disorders. 38
25025777 2014
90
Whole-genome sequencing and the clinician: a tale of two cities. 38
24706943 2014
91
Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies. 38
24907562 2014
92
Fibronectin is a serum biomarker for Duchenne muscular dystrophy. 38
24458521 2014
93
A mouse model for dominant collagen VI disorders: heterozygous deletion of Col6a3 Exon 16. 38
24563484 2014
94
Spinal Deformity in Bethlem Myopathy. 38
27927380 2014
95
Progressive cardiac dysfunction in Bethlem myopathy during pregnancy. 38
24413245 2014
96
Bethlem myopathy: pregnancy and delivery. 38
23832171 2014
97
Nutritional status evaluation in patients affected by bethlem myopathy and ullrich congenital muscular dystrophy. 38
25477818 2014
98
Melanocytes from Patients Affected by Ullrich Congenital Muscular Dystrophy and Bethlem Myopathy have Dysfunctional Mitochondria That Can be Rescued with Cyclophilin Inhibitors. 38
25477819 2014
99
Collagen type VI myopathies. 38
24443028 2014
100
Cyclosporin A Promotes in vivo Myogenic Response in Collagen VI-Deficient Myopathic Mice. 38
25309428 2014
101
Natural history of pulmonary function in collagen VI-related myopathies. 38
24271325 2013
102
Ultrastructural changes in muscle cells of patients with collagen VI-related myopathies. 38
24596691 2013
103
Bethlem myopathy: An autosomal dominant myopathy with flexion contractures, keloids, and follicular hyperkeratosis. 38
24339618 2013
104
Mitochondrial dysfunction in neuromuscular disorders. 38
24331362 2013
105
Mitochondrial dysfunction and defective autophagy in the pathogenesis of collagen VI muscular dystrophies. 38
23580791 2013
106
Muscle MRI in Bethlem myopathy. 38
23595177 2013
107
Body composition, muscle strength, and physical function of patients with Bethlem myopathy and Ullrich congenital muscular dystrophy. 38
24163611 2013
108
Spontaneous keloid formation in patients with Bethlem myopathy. 38
23170014 2012
109
Reliability and accuracy of skeletal muscle imaging in limb-girdle muscular dystrophies. 38
23035061 2012
110
[Clinical and mutation analyses of a Chinese family with Bethlem myopathy]. 38
23290209 2012
111
Muscle MRI findings in limb girdle muscular dystrophy type 2L. 38
22980763 2012
112
Critical evaluation of the use of cell cultures for inclusion in clinical trials of patients affected by collagen VI myopathies. 38
21953374 2012
113
Expression of collagen VI α5 and α6 chains in human muscle and in Duchenne muscular dystrophy-related muscle fibrosis. 38
22226732 2012
114
Flow cytometry analysis: a quantitative method for collagen VI deficiency screening. 38
22075033 2012
115
[Collagen VI-related muscle disorders]. 38
22068469 2011
116
ColVI myopathies: where do we stand, where do we go? 38
21943391 2011
117
Macrophages: a minimally invasive tool for monitoring collagen VI myopathies. 38
21488057 2011
118
The collagen VI-related myopathies: muscle meets its matrix. 38
21691338 2011
119
Autophagy induction rescues muscular dystrophy. 38
21543891 2011
120
The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy. 38
21496625 2011
121
Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy. 38
21280092 2011
122
Expression of the collagen VI α5 and α6 chains in normal human skin and in skin of patients with collagen VI-related myopathies. 38
20882040 2011
123
Autophagy is defective in collagen VI muscular dystrophies, and its reactivation rescues myofiber degeneration. 38
21037586 2010
124
Collagen VI microfibril formation is abolished by an {alpha}2(VI) von Willebrand factor type A domain mutation in a patient with Ullrich congenital muscular dystrophy. 38
20729548 2010
125
Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern. 38
20576434 2010
126
Bethlem myopathy: a study of two families. 38
20739820 2010
127
Zebrafish models of collagen VI-related myopathies. 38
20338942 2010
128
Magnetic resonance imaging, ultrasound and real-time ultrasound elastography of the thigh muscles in congenital muscle dystrophy. 38
20205351 2010
129
Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies. 38
20302629 2010
130
Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine. 38
20225280 2010
131
Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. 38
19767415 2009
132
The cyclophilin inhibitor Debio 025 normalizes mitochondrial function, muscle apoptosis and ultrastructural defects in Col6a1-/- myopathic mice. 38
19519726 2009
133
Genetic ablation of cyclophilin D rescues mitochondrial defects and prevents muscle apoptosis in collagen VI myopathic mice. 38
19293339 2009
134
Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects. 38
19330236 2009
135
Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue. 38
19015158 2009
136
Joint hypermobility as a distinctive feature in the differential diagnosis of myopathies. 38
19221853 2009
137
Dysfunction of mitochondria and sarcoplasmic reticulum in the pathogenesis of collagen VI muscular dystrophies. 38
19076452 2008
138
Therapy of collagen VI-related myopathies (Bethlem and Ullrich). 38
19019314 2008
139
Autosomal recessive myosclerosis myopathy is a collagen VI disorder. 38
18852439 2008
140
Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity. 38
18825676 2008
141
Three novel collagen VI chains with high homology to the alpha3 chain. 38
18276594 2008
142
Primary myopathies and the heart. 38
18273731 2008
143
Cardiac involvement in Bethlem myopathy. 38
17562947 2007
144
Cardiac and pulmonary investigations in Bethlem myopathy. 38
17101832 2006
145
COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy. 38
16278855 2006
146
Non-collagenic etiologies of muscle weakness with joint deformities: about two paradigmatic case reports. 38
16550920 2005
147
Ullrich congenital muscular dystrophy and Bethlem myopathy: clinical and genetic heterogeneity. 38
16258657 2005
148
Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy. 38
15792870 2005
149
Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures. 38
15694138 2005
150
Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency. 38
14625552 2003
151
Muscle ultrasound in Bethlem myopathy. 38
14681763 2003
152
Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands. 38
12467756 2002
153
Effects on collagen VI mRNA stability and microfibrillar assembly of three COL6A2 mutations in two families with Ullrich congenital muscular dystrophy. 38
12218063 2002
154
Bethlem myopathy in a black creole pedigree. 38
19078680 2002
155
Sarcolemmal proteins and the spectrum of limb-girdle muscular dystrophies. 38
12139001 2002
156
Heterogeneity in familial dominant Paget disease of bone and muscular dystrophy. 38
11891683 2002
157
Bethlem myopathy (BETHLEM) 86th ENMC international workshop, 10-11 November 2000, Naarden, The Netherlands. 38
11801404 2002
158
Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. 38
12374585 2002
159
Kinked collagen VI tetramers and reduced microfibril formation as a result of Bethlem myopathy and introduced triple helical glycine mutations. 38
11707460 2002
160
Collagen VI deficiency affects the organization of fibronectin in the extracellular matrix of cultured fibroblasts. 38
11691587 2001
161
The ABC's of limb-girdle muscular dystrophy: alpha-sarcoglycanopathy, Bethlem myopathy, calpainopathy and more. 38
11562567 2001
162
Bethlem myopathy in a Taiwanese family. 38
11480253 2001
163
Sarcolemmopathy: muscular dystrophies with cell membrane defects. 38
11303797 2001
164
Collagens and collagen-related diseases. 38
11310942 2001
165
A Bethlem myopathy Gly to Glu mutation in the von Willebrand factor A domain N2 of the collagen alpha3(VI) chain interferes with protein folding. 38
10744632 2000
166
Reliable and sensitive detection of premature termination mutations using a protein truncation test designed to overcome problems of nonsense-mediated mRNA instability. 38
10220145 1999
167
Collagen VI deficiency induces early onset myopathy in the mouse: an animal model for Bethlem myopathy. 38
9817932 1998
168
Early onset, autosomal recessive muscular dystrophy with Emery-Dreifuss phenotype and normal emerin expression. 38
9781539 1998
169
[A family of autosomal dominant facio-limb-girdle muscular dystrophy]. 38
9011111 1996
170
Early-onset benign limb-girdle myopathy with contractures and facial involvement affecting a father and daughter. 38
8543948 1995
171
A Danish family with limb-girdle muscular dystrophy with autosomal dominant inheritance. 38
8012194 1994
172
The heart in Becker muscular dystrophy, facioscapulohumeral dystrophy, and Bethlem myopathy. 38
1584251 1992
173
[Early-onset benign autosomal dominant limb-girdle myopathy with contractures (Bethlem myopathy) in a Japanese family]. 38
1611771 1992
174
Early-onset benign autosomal-dominant limb-girdle myopathy with contractures (Bethlem myopathy). 38
2803379 1989

Variations for Bethlem Myopathy 1

ClinVar genetic disease variations for Bethlem Myopathy 1:

6 (showing 1163, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 COL6A3 NM_004369.3(COL6A3): c.5480del (p.Gly1827fs) deletion Pathogenic rs777304794 2:238275350-238275350 2:237366707-237366707
2 COL6A3 NM_004369.3(COL6A3): c.2506C> T (p.Arg836Ter) single nucleotide variant Pathogenic rs761796175 2:238285979-238285979 2:237377336-237377336
3 COL6A3 NM_004369.3(COL6A3): c.2620C> T (p.Arg874Ter) single nucleotide variant Pathogenic rs1553561409 2:238285865-238285865 2:237377222-237377222
4 COL6A3 NM_004369.3(COL6A3): c.6230G> T (p.Gly2077Val) single nucleotide variant Pathogenic rs1553553646 2:238268783-238268783 2:237360140-237360140
5 COL6A3 NM_004369.3(COL6A3): c.76C> T (p.Gln26Ter) single nucleotide variant Pathogenic rs763187844 2:238305385-238305385 2:237396742-237396742
6 COL6A3 NM_004369.3(COL6A3): c.6230G> A (p.Gly2077Asp) single nucleotide variant Pathogenic rs1553553646 2:238268783-238268783 2:237360140-237360140
7 COL6A1 NM_001848.2(COL6A1): c.1003-2del deletion Pathogenic rs1556425835 21:47410685-47410685 21:45990771-45990771
8 COL6A2 NM_001849.3(COL6A2): c.812G> T (p.Gly271Val) single nucleotide variant Pathogenic rs794727788 21:47535796-47535796 21:46115882-46115882
9 COL6A2 NM_001849.3(COL6A2): c.874G> C (p.Gly292Arg) single nucleotide variant Pathogenic rs727502828 21:47535941-47535941 21:46116027-46116027
10 COL6A2 NM_001849.3(COL6A2): c.2002G> T (p.Glu668Ter) single nucleotide variant Pathogenic rs138948335 21:47545731-47545731 21:46125817-46125817
11 COL6A1 NM_001848.2(COL6A1): c.823G> T (p.Gly275Trp) single nucleotide variant Pathogenic rs1556425467 21:47409016-47409016 21:45989102-45989102
12 COL6A1 NM_001848.2(COL6A1): c.868G> T (p.Gly290Trp) single nucleotide variant Pathogenic rs121912939 21:47409531-47409531 21:45989617-45989617
13 COL6A1 NM_001848.2(COL6A1): c.148del (p.Ala49_Leu50insTer) deletion Pathogenic rs1556423728 21:47402598-47402598 21:45982684-45982684
14 COL6A2 NM_001849.3(COL6A2): c.1459-2A> G single nucleotide variant Pathogenic rs749974929 21:47541468-47541468 21:46121554-46121554
15 COL6A3 NM_004369.3(COL6A3): c.6212_6309+28del deletion Pathogenic rs1553553313 2:238267977-238268801 2:237359334-237360158
16 COL6A2 NM_001849.3(COL6A2): c.1059del (p.Asp354fs) deletion Pathogenic rs1555873508 21:47537793-47537793 21:46117879-46117879
17 COL6A1 NM_001848.2(COL6A1): c.930+189C> T single nucleotide variant Pathogenic rs1556425596 21:47409881-47409881 21:45989967-45989967
18 COL6A2 NM_001849.3(COL6A2): c.641_645del (p.Asn214fs) deletion Pathogenic rs1375040481 21:47532418-47532422 21:46112504-46112508
19 COL6A1 NM_001848.2(COL6A1): c.905G> A (p.Gly302Glu) single nucleotide variant Pathogenic rs1556425566 21:47409667-47409667 21:45989753-45989753
20 COL6A1 NM_001848.2(COL6A1): c.2431_2434+36del deletion Pathogenic rs759918870 21:47422621-47422660 21:46002707-46002746
21 COL6A3 NM_004369.3(COL6A3): c.5177T> G (p.Leu1726Arg) single nucleotide variant Pathogenic rs121434555 2:238275653-238275653 2:237367010-237367010
22 COL6A2 NM_001849.3(COL6A2): c.811G> A (p.Gly271Ser) single nucleotide variant Pathogenic rs121912940 21:47535795-47535795 21:46115881-46115881
23 COL6A2 NM_001849.3(COL6A2): c.1861G> A (p.Asp621Asn) single nucleotide variant Pathogenic rs267606750 21:47545423-47545423 21:46125509-46125509
24 COL6A2 NM_001849.3(COL6A2): c.1000-2A> G single nucleotide variant Pathogenic 21:47537312-47537312 21:46117398-46117398
25 COL6A1 NM_001848.2(COL6A1): c.1577G> T (p.Gly526Val) single nucleotide variant Pathogenic rs121912934 21:47418313-47418313 21:45998399-45998399
26 COL6A1 NM_001848.2(COL6A1): c.931-1G> A single nucleotide variant Pathogenic 21:47410171-47410171 21:45990257-45990257
27 COL6A1 NM_001848.2(COL6A1): c.1056+2T> C single nucleotide variant Pathogenic rs797044456 21:47410742-47410742 21:45990828-45990828
28 COL6A1 NM_001848.2(COL6A1): c.1022G> A (p.Gly341Asp) single nucleotide variant Pathogenic rs121912935 21:47410706-47410706 21:45990792-45990792
29 COL6A1 NM_001848.2(COL6A1): c.362A> G (p.Lys121Arg) single nucleotide variant Pathogenic rs121912936 21:47404317-47404317 21:45984403-45984403
30 COL6A1 NM_001848.2(COL6A1): c.1003_1056del54 single nucleotide variant Pathogenic rs398123631 21:47410741-47410741 21:45990827-45990827
31 COL6A1 NM_001848.2(COL6A1): c.428+1G> A single nucleotide variant Pathogenic 21:47404384-47404384 21:45984470-45984470
32 COL6A1 NM_001848.2(COL6A1): c.850G> A (p.Gly284Arg) single nucleotide variant Pathogenic rs121912938 21:47409043-47409043 21:45989129-45989129
33 COL6A3 COL6A3, IVS15DS, GT-TC, +1 undetermined variant Pathogenic
34 COL6A2 NM_001849.3(COL6A2): c.1096C> T (p.Arg366Ter) single nucleotide variant Pathogenic rs387906609 21:47537830-47537830 21:46117916-46117916
35 COL6A1 NM_001848.2(COL6A1): c.868G> A (p.Gly290Arg) single nucleotide variant Pathogenic rs121912939 21:47409531-47409531 21:45989617-45989617
36 COL6A3 NM_004369.3(COL6A3): c.6210+1G> A single nucleotide variant Pathogenic rs398124126 2:238269763-238269763 2:237361120-237361120
37 COL6A3 NM_004369.3(COL6A3): c.8966-1G> C single nucleotide variant Pathogenic rs767517186 2:238243533-238243533 2:237334890-237334890
38 COL6A3 NM_004369.3(COL6A3): c.6239G> A (p.Gly2080Asp) single nucleotide variant Pathogenic rs794727188 2:238268774-238268774 2:237360131-237360131
39 COL6A2 NM_001849.3(COL6A2): c.875G> T (p.Gly292Val) single nucleotide variant Pathogenic rs794727855 21:47535942-47535942 21:46116028-46116028
40 COL6A1 NM_001848.2(COL6A1): c.1022G> T (p.Gly341Val) single nucleotide variant Pathogenic rs121912935 21:47410706-47410706 21:45990792-45990792
41 COL6A3 NM_004369.3(COL6A3): c.6220G> A (p.Gly2074Ser) single nucleotide variant Pathogenic rs886044252 2:238268793-238268793 2:237360150-237360150
42 COL6A2 NM_001849.3(COL6A2): c.1751del (p.Pro584fs) deletion Pathogenic rs886044398 21:47544815-47544815 21:46124901-46124901
43 COL6A1 NM_001848.2(COL6A1): c.931-1G> C single nucleotide variant Pathogenic rs886042354 21:47410171-47410171 21:45990257-45990257
44 COL6A3 NM_004369.3(COL6A3): c.6309+1G> A single nucleotide variant Pathogenic 2:238268004-238268004 2:237359361-237359361
45 COL6A3 NM_004369.3(COL6A3): c.1699C> T (p.Gln567Ter) single nucleotide variant Pathogenic 2:238289756-238289756 2:237381113-237381113
46 COL6A2 NC_000021.8: g.(?_47401745)_(47552486_?)del deletion Pathogenic 21:47401745-47552486 21:45981831-46132572
47 COL6A1 NC_000021.8: g.(?_47408978)_(47409071_?)del deletion Pathogenic 21:47408978-47409071 21:45989064-45989157
48 COL6A2 NM_001849.3(COL6A2): c.1294A> T (p.Lys432Ter) single nucleotide variant Pathogenic 21:47539726-47539726 21:46119812-46119812
49 COL6A2 NM_001849.3(COL6A2): c.1402C> T (p.Arg468Ter) single nucleotide variant Pathogenic 21:47540981-47540981 21:46121067-46121067
50 COL6A2 NC_000021.8: g.(?_47531391)_(47541037_?)del deletion Pathogenic 21:47531391-47541037 21:46111477-46121123
51 COL6A1 NM_001848.2(COL6A1): c.814G> C (p.Gly272Arg) single nucleotide variant Pathogenic 21:47409007-47409007 21:45989093-45989093
52 COL6A3 NM_004369.3(COL6A3): c.6309G> A (p.Lys2103=) single nucleotide variant Pathogenic 2:238268005-238268005 2:237359362-237359362
53 COL6A1 NM_001848.2(COL6A1): c.887G> T (p.Gly296Val) single nucleotide variant Pathogenic 21:47409550-47409550 21:45989636-45989636
54 COL6A3 NM_004369.3(COL6A3): c.2431C> T (p.Gln811Ter) single nucleotide variant Pathogenic 2:238287345-238287345 2:237378702-237378702
55 COL6A1 NM_001848.2(COL6A1): c.58C> T (p.Gln20Ter) single nucleotide variant Pathogenic 21:47401822-47401822 21:45981908-45981908
56 COL6A2 NC_000021.8: g.(?_47531371)_(47541057_?)del deletion Pathogenic 21:47531371-47541057 21:46111457-46121143
57 COL6A1 NM_001848.2(COL6A1): c.1003-2A> C single nucleotide variant Pathogenic 21:47410685-47410685 21:45990771-45990771
58 COL6A1 NM_001848.2(COL6A1): c.1003-1G> T single nucleotide variant Pathogenic 21:47410686-47410686 21:45990772-45990772
59 COL6A2 NM_001849.3(COL6A2): c.736-1G> C single nucleotide variant Pathogenic 21:47533921-47533921 21:46114007-46114007
60 COL6A3 NM_004369.3(COL6A3): c.5838+1G> T single nucleotide variant Pathogenic/Likely pathogenic 2:238274340-238274340 2:237365697-237365697
61 COL6A2 NM_001849.3(COL6A2): c.848G> A (p.Gly283Glu) single nucleotide variant Pathogenic/Likely pathogenic rs886044088 21:47535832-47535832 21:46115918-46115918
62 COL6A2 NM_001849.3(COL6A2): c.1054-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs886044023 21:47537786-47537786 21:46117872-46117872
63 COL6A3 NM_004369.3(COL6A3): c.6193G> C (p.Gly2065Arg) single nucleotide variant Pathogenic/Likely pathogenic rs397515332 2:238269781-238269781 2:237361138-237361138
64 COL6A3 NM_004369.3(COL6A3): c.6354+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs886042883 2:238267848-238267848 2:237359205-237359205
65 COL6A1 NM_001848.2(COL6A1): c.1021G> T (p.Gly341Cys) single nucleotide variant Pathogenic/Likely pathogenic rs886043321 21:47410705-47410705 21:45990791-45990791
66 COL6A2 NM_001849.3(COL6A2): c.838G> C (p.Gly280Arg) single nucleotide variant Pathogenic/Likely pathogenic rs886043323 21:47535822-47535822 21:46115908-46115908
67 COL6A2 NM_001849.3(COL6A2): c.801+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs794727715 21:47533988-47533988 21:46114074-46114074
68 COL6A3 NM_004369.3(COL6A3): c.175C> T (p.Arg59Ter) single nucleotide variant Pathogenic/Likely pathogenic rs398124119 2:238303764-238303764 2:237395121-237395121
69 COL6A1 NM_001848.2(COL6A1): c.877G> A (p.Gly293Arg) single nucleotide variant Pathogenic/Likely pathogenic rs398123643 21:47409540-47409540 21:45989626-45989626
70 COL6A1 NM_001848.2(COL6A1): c.957_957+7del deletion Pathogenic/Likely pathogenic rs1556425687 21:47410198-47410205 21:45990284-45990291
71 COL6A3 NM_004369.3(COL6A3): c.6310-28_6325del44 deletion Pathogenic/Likely pathogenic rs1553553267 2:238267878-238267921 2:237359235-237359278
72 COL6A2 NM_001849.3(COL6A2): c.115+2T> C single nucleotide variant Pathogenic/Likely pathogenic rs770842374 21:47531507-47531507 21:46111593-46111593
73 COL6A2 NM_001849.3(COL6A2): c.1000-2A> C single nucleotide variant Pathogenic/Likely pathogenic rs1555873356 21:47537312-47537312 21:46117398-46117398
74 COL6A2 NM_001849.3(COL6A2): c.2572C> T (p.Gln858Ter) single nucleotide variant Likely pathogenic rs1555877252 21:47551978-47551978 21:46132064-46132064
75 COL6A3 NM_004369.3(COL6A3): c.6853G> A (p.Gly2285Arg) single nucleotide variant Likely pathogenic rs1268762655 2:238258816-238258816 2:237350173-237350173
76 COL6A3 NM_004369.3(COL6A3): c.7669-2del deletion Likely pathogenic rs764193290 2:238250806-238250806 2:237342163-237342163
77 COL6A2 NM_001849.3(COL6A2): c.1000-13_1030del deletion Likely pathogenic rs1555873353 21:47537301-47537344 21:46117387-46117430
78 COL6A1 NM_001848.2(COL6A1): c.824G> T (p.Gly275Val) single nucleotide variant Likely pathogenic rs1556425468 21:47409017-47409017 21:45989103-45989103
79 COL6A2 NM_001849.3(COL6A2): c.1055del (p.Gly352Alafs) deletion Likely pathogenic rs1555873507 21:47537789-47537789 21:46117875-46117875
80 COL6A3 NM_004369.3(COL6A3): c.5036G> A (p.Gly1679Glu) single nucleotide variant Likely pathogenic rs121434553 2:238275794-238275794 2:237367151-237367151
81 COL6A2 NM_001849.3(COL6A2): c.2329T> C (p.Cys777Arg) single nucleotide variant Likely pathogenic rs267606747 21:47546058-47546058 21:46126144-46126144
82 COL6A1 NM_001848.2(COL6A1): c.958-2A> G single nucleotide variant Likely pathogenic rs1556425717 21:47410290-47410290 21:45990376-45990376
83 COL6A3 NM_004369.3(COL6A3): c.6283-2A> C single nucleotide variant Likely pathogenic rs797044988 2:238268033-238268033 2:237359390-237359390
84 COL6A3 NM_004369.3(COL6A3): c.7264C> T (p.Arg2422Ter) single nucleotide variant Likely pathogenic rs878854379 2:238253397-238253397 2:237344754-237344754
85 COL6A2 NM_001849.3(COL6A2): c.954G> T (p.Lys318Asn) single nucleotide variant Likely pathogenic rs878854362 21:47536591-47536591 21:46116677-46116677
86 COL6A2 NM_001849.3(COL6A2): c.857G> A (p.Gly286Glu) single nucleotide variant Likely pathogenic rs727502827 21:47535924-47535924 21:46116010-46116010
87 COL6A2 NM_001849.3(COL6A2): c.911G> T (p.Gly304Val) single nucleotide variant Likely pathogenic rs727502832 21:47536301-47536301 21:46116387-46116387
88 COL6A3 NM_004369.3(COL6A3): c.6212G> A (p.Gly2071Asp) single nucleotide variant Likely pathogenic rs886043737 2:238268801-238268801 2:237360158-237360158
89 COL6A3 NM_004369.3(COL6A3): c.6310-2A> G single nucleotide variant Likely pathogenic 2:238267895-238267895 2:237359252-237359252
90 COL6A2 NM_001849.3(COL6A2): c.839G> A (p.Gly280Asp) single nucleotide variant Likely pathogenic 21:47535823-47535823 21:46115909-46115909
91 COL6A2 NM_001849.3(COL6A2): c.955-3_955-1delinsAA indel Likely pathogenic 21:47536681-47536683 21:46116767-46116769
92 COL6A3 NM_004369.3(COL6A3): c.1897+1G> T single nucleotide variant Likely pathogenic 2:238289557-238289557 2:237380914-237380914
93 COL6A3 NC_000002.11: g.(?_238267144)_(238269837_?)del deletion Likely pathogenic 2:238267144-238269837 2:237358501-237361194
94 COL6A1 NM_001848.2(COL6A1): c.1398+2T> G single nucleotide variant Likely pathogenic 21:47414145-47414145 21:45994231-45994231
95 COL6A3 NM_004369.3(COL6A3): c.6320_6322del (p.Gly2107del) deletion Likely pathogenic 2:238267881-238267883 2:237359238-237359240
96 COL6A2 NM_001849.3(COL6A2): c.1806C> A (p.Cys602Ter) single nucleotide variant Likely pathogenic 21:47545215-47545215 21:46125301-46125301
97 COL6A1 NM_001848.2(COL6A1): c.788G> T (p.Gly263Val) single nucleotide variant Likely pathogenic 21:47407552-47407552 21:45987638-45987638
98 COL6A1 NM_001848.2(COL6A1): c.1823-1G> T single nucleotide variant Likely pathogenic 21:47421166-47421166 21:46001252-46001252
99 COL6A1 NM_001848.2(COL6A1): c.1576-1G> A single nucleotide variant Likely pathogenic 21:47418311-47418311 21:45998397-45998397
100 COL6A2 NM_001849.3(COL6A2): c.1180-2A> G single nucleotide variant Likely pathogenic 21:47538942-47538942 21:46119028-46119028
101 COL6A1 NM_001848.2(COL6A1): c.878G> A (p.Gly293Glu) single nucleotide variant Likely pathogenic 21:47409541-47409541 21:45989627-45989627
102 COL6A2 NM_001849.3(COL6A2): c.735+9_784del deletion Likely pathogenic 21:47532745-47533968 21:46112833-46114056
103 COL6A1 NM_001848.2(COL6A1): c.1575+1G> A single nucleotide variant Likely pathogenic 21:47418086-47418086 21:45998172-45998172
104 COL6A1 NM_001848.2(COL6A1): c.1576-2_1576-1del deletion Likely pathogenic 21:47418310-47418311 21:45998396-45998397
105 COL6A1 NM_001848.2(COL6A1): c.809_811del (p.Glu270_Arg271delinsGly) deletion Likely pathogenic 21:47409002-47409004 21:45989088-45989090
106 COL6A3 NM_004369.3(COL6A3): c.8137A> G (p.Arg2713Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs772602377 2:238249422-238249422 2:237340779-237340779
107 COL6A3 NM_004369.3(COL6A3): c.3751G> A (p.Val1251Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs199646208 2:238280909-238280909 2:237372266-237372266
108 COL6A3 NM_004369.3(COL6A3): c.5646G> T (p.Ser1882=) single nucleotide variant Conflicting interpretations of pathogenicity rs886055807 2:238274533-238274533 2:237365890-237365890
109 COL6A3 NM_004369.3(COL6A3): c.3190C> T (p.Arg1064Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs369810455 2:238283544-238283544 2:237374901-237374901
110 COL6A3 NM_004369.3(COL6A3): c.5179C> T (p.Arg1727Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs143074017 2:238275651-238275651 2:237367008-237367008
111 COL6A1 NM_001848.2(COL6A1): c.2857G> A (p.Ala953Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs150378645 21:47423697-47423697 21:46003783-46003783
112 COL6A2 NM_001849.3(COL6A2): c.2454C> T (p.Cys818=) single nucleotide variant Conflicting interpretations of pathogenicity rs199499499 21:47546448-47546448 21:46126534-46126534
113 COL6A3 NM_004369.3(COL6A3): c.6237C> T (p.Asn2079=) single nucleotide variant Conflicting interpretations of pathogenicity rs34390834 2:238268776-238268776 2:237360133-237360133
114 COL6A3 NM_004369.3(COL6A3): c.1131C> T (p.Phe377=) single nucleotide variant Conflicting interpretations of pathogenicity rs189772397 2:238296406-238296406 2:237387763-237387763
115 COL6A3 NM_004369.3(COL6A3): c.5252C> T (p.Thr1751Met) single nucleotide variant Conflicting interpretations of pathogenicity rs201147199 2:238275578-238275578 2:237366935-237366935
116 COL6A2 NM_001849.3(COL6A2): c.1674G> A (p.Ala558=) single nucleotide variant Conflicting interpretations of pathogenicity rs144334894 21:47544567-47544567 21:46124653-46124653
117 COL6A2 NM_001849.3(COL6A2): c.1037_1038delinsTT (p.Gly346Val) indel Conflicting interpretations of pathogenicity 21:47537351-47537352 21:46117437-46117438
118 COL6A2 NM_001849.3(COL6A2): c.735+7G> A single nucleotide variant Conflicting interpretations of pathogenicity rs575365107 21:47532745-47532745 21:46112831-46112831
119 COL6A2 NM_001849.3(COL6A2): c.2634G> A (p.Ala878=) single nucleotide variant Conflicting interpretations of pathogenicity rs143749884 21:47552040-47552040 21:46132126-46132126
120 COL6A3 NM_004369.3(COL6A3): c.4431C> T (p.Val1477=) single nucleotide variant Conflicting interpretations of pathogenicity rs151289203 2:238277675-238277675 2:237369032-237369032
121 COL6A2 NM_001849.3(COL6A2): c.2707G> A (p.Glu903Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs373611722 21:47552113-47552113 21:46132199-46132199
122 COL6A3 NM_004369.3(COL6A3): c.5019C> T (p.Gly1673=) single nucleotide variant Conflicting interpretations of pathogenicity rs140516220 2:238275811-238275811 2:237367168-237367168
123 COL6A3 NM_004369.3(COL6A3): c.2147G> A (p.Gly716Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs144514259 2:238287629-238287629 2:237378986-237378986
124 COL6A3 NM_004369.3(COL6A3): c.7575G> A (p.Gln2525=) single nucleotide variant Conflicting interpretations of pathogenicity rs752232293 2:238253086-238253086 2:237344443-237344443
125 COL6A3 NM_004369.3(COL6A3): c.8193A> C (p.Pro2731=) single nucleotide variant Conflicting interpretations of pathogenicity rs140441798 2:238249366-238249366 2:237340723-237340723
126 COL6A3 NM_004369.3(COL6A3): c.1065C> T (p.Ala355=) single nucleotide variant Conflicting interpretations of pathogenicity rs115155458 2:238296472-238296472 2:237387829-237387829
127 COL6A2 NM_001849.3(COL6A2): c.2784C> T (p.Ile928=) single nucleotide variant Conflicting interpretations of pathogenicity rs199501232 21:47552190-47552190 21:46132276-46132276
128 COL6A3 NM_004369.3(COL6A3): c.2231C> T (p.Pro744Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs199504304 2:238287545-238287545 2:237378902-237378902
129 COL6A1 NM_001848.2(COL6A1): c.2355C> A (p.Gly785=) single nucleotide variant Conflicting interpretations of pathogenicity rs149910296 21:47422545-47422545 21:46002631-46002631
130 COL6A3 NM_004369.3(COL6A3): c.861C> T (p.Ser287=) single nucleotide variant Conflicting interpretations of pathogenicity rs756380512 2:238296676-238296676 2:237388033-237388033
131 COL6A2 NM_001849.3(COL6A2): c.1970-10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs373369963 21:47545689-47545689 21:46125775-46125775
132 COL6A2 NM_001849.3(COL6A2): c.2937C> T (p.Asp979=) single nucleotide variant Conflicting interpretations of pathogenicity rs150716220 21:47552343-47552343 21:46132429-46132429
133 COL6A2 NM_001849.3(COL6A2): c.2244C> T (p.Cys748=) single nucleotide variant Conflicting interpretations of pathogenicity rs201426778 21:47545973-47545973 21:46126059-46126059
134 COL6A3 NM_004369.3(COL6A3): c.2529C> T (p.Asp843=) single nucleotide variant Conflicting interpretations of pathogenicity rs556079869 2:238285956-238285956 2:237377313-237377313
135 COL6A3 NM_004369.3(COL6A3): c.786C> T (p.Leu262=) single nucleotide variant Conflicting interpretations of pathogenicity rs111481402 2:238296751-238296751 2:237388108-237388108
136 COL6A3 NM_004369.3(COL6A3): c.5470C> T (p.Leu1824Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs114131542 2:238275360-238275360 2:237366717-237366717
137 COL6A2 NM_001849.3(COL6A2): c.1356C> T (p.Pro452=) single nucleotide variant Conflicting interpretations of pathogenicity rs886044428 21:47540452-47540452 21:46120538-46120538
138 COL6A3 NM_004369.3(COL6A3): c.4677C> T (p.Phe1559=) single nucleotide variant Conflicting interpretations of pathogenicity rs147215386 2:238277429-238277429 2:237368786-237368786
139 COL6A3 NM_004369.3(COL6A3): c.3371C> T (p.Ala1124Val) single nucleotide variant Conflicting interpretations of pathogenicity rs374447921 2:238283363-238283363 2:237374720-237374720
140 COL6A2 NM_001849.3(COL6A2): c.1288G> A (p.Gly430Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs765430501 21:47539720-47539720 21:46119806-46119806
141 COL6A3 NM_004369.3(COL6A3): c.4121A> T (p.Asp1374Val) single nucleotide variant Conflicting interpretations of pathogenicity rs766488017 2:238280539-238280539 2:237371896-237371896
142 COL6A3 NM_004369.3(COL6A3): c.7551C> T (p.Asn2517=) single nucleotide variant Conflicting interpretations of pathogenicity rs570963533 2:238253110-238253110 2:237344467-237344467
143 COL6A3 NM_004369.3(COL6A3): c.4510C> A (p.Arg1504=) single nucleotide variant Conflicting interpretations of pathogenicity rs144223596 2:238277596-238277596 2:237368953-237368953
144 COL6A1 NM_001848.2(COL6A1): c.2464+9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs368651226 21:47423072-47423072 21:46003158-46003158
145 COL6A3 NM_004369.3(COL6A3): c.5652C> T (p.Thr1884=) single nucleotide variant Conflicting interpretations of pathogenicity rs200285455 2:238274527-238274527 2:237365884-237365884
146 COL6A2 NM_001849.3(COL6A2): c.492C> T (p.His164=) single nucleotide variant Conflicting interpretations of pathogenicity rs140929054 21:47532269-47532269 21:46112355-46112355
147 COL6A2 NM_001849.3(COL6A2): c.1962C> T (p.Ser654=) single nucleotide variant Conflicting interpretations of pathogenicity rs150253422 21:47545524-47545524 21:46125610-46125610
148 COL6A2 NM_001849.3(COL6A2): c.2170C> T (p.Arg724Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs150098077 21:47545899-47545899 21:46125985-46125985
149 COL6A1 NM_001848.2(COL6A1): c.3029A> G (p.Gln1010Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs141605607 21:47423869-47423869 21:46003955-46003955
150 COL6A1 NM_001848.2(COL6A1): c.1666G> A (p.Gly556Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs886043521 21:47418865-47418865 21:45998951-45998951
151 COL6A3 NM_004369.3(COL6A3): c.9498C> T (p.Leu3166=) single nucleotide variant Conflicting interpretations of pathogenicity rs150376179 2:238233453-238233453 2:237324810-237324810
152 COL6A2 NM_001849.3(COL6A2): c.288C> T (p.Tyr96=) single nucleotide variant Conflicting interpretations of pathogenicity rs61735833 21:47532065-47532065 21:46112151-46112151
153 COL6A2 NM_001849.3(COL6A2): c.942C> T (p.Ala314=) single nucleotide variant Conflicting interpretations of pathogenicity rs531713008 21:47536579-47536579 21:46116665-46116665
154 COL6A3 NM_004369.3(COL6A3): c.5394C> T (p.Arg1798=) single nucleotide variant Conflicting interpretations of pathogenicity rs202086524 2:238275436-238275436 2:237366793-237366793
155 COL6A3 NM_004369.3(COL6A3): c.4900+9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs117345850 2:238277197-238277197 2:237368554-237368554
156 COL6A3 NM_004369.3(COL6A3): c.3118G> A (p.Val1040Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs78427077 2:238283616-238283616 2:237374973-237374973
157 COL6A1 NM_001848.2(COL6A1): c.424G> C (p.Val142Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs144282452 21:47404379-47404379 21:45984465-45984465
158 COL6A1 NM_001848.2(COL6A1): c.409C> G (p.Leu137Val) single nucleotide variant Conflicting interpretations of pathogenicity rs139648899 21:47404364-47404364 21:45984450-45984450
159 COL6A3 NM_004369.3(COL6A3): c.5968C> T (p.Arg1990Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs146546544 2:238271991-238271991 2:237363348-237363348
160 COL6A3 NM_004369.3(COL6A3): c.7749G> A (p.Thr2583=) single nucleotide variant Conflicting interpretations of pathogenicity rs758582935 2:238250724-238250724 2:237342081-237342081
161 COL6A2 NM_001849.3(COL6A2): c.2661G> A (p.Glu887=) single nucleotide variant Conflicting interpretations of pathogenicity rs148249892 21:47552067-47552067 21:46132153-46132153
162 COL6A1 NM_001848.2(COL6A1): c.717+4A> G single nucleotide variant Conflicting interpretations of pathogenicity rs762867111 21:47406990-47406990 21:45987076-45987076
163 COL6A3 NM_004369.3(COL6A3): c.3699C> T (p.Asp1233=) single nucleotide variant Conflicting interpretations of pathogenicity rs542411896 2:238280961-238280961 2:237372318-237372318
164 COL6A1 NM_001848.2(COL6A1): c.1602C> T (p.Pro534=) single nucleotide variant Conflicting interpretations of pathogenicity rs143755280 21:47418338-47418338 21:45998424-45998424
165 COL6A3 NM_004369.3(COL6A3): c.6898G> A (p.Gly2300Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs763348222 2:238257288-238257288 2:237348645-237348645
166 COL6A3 NM_004369.3(COL6A3): c.8978G> A (p.Arg2993His) single nucleotide variant Conflicting interpretations of pathogenicity rs201888442 2:238243520-238243520 2:237334877-237334877
167 COL6A1 NM_001848.2(COL6A1): c.666C> T (p.Arg222=) single nucleotide variant Conflicting interpretations of pathogenicity rs372581026 21:47406935-47406935 21:45987021-45987021
168 COL6A3 NM_004369.3(COL6A3): c.6199G> A (p.Glu2067Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs760446904 2:238269775-238269775 2:237361132-237361132
169 COL6A2 NM_001849.3(COL6A2): c.1489C> A (p.Pro497Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs75581470 21:47541500-47541500 21:46121586-46121586
170 COL6A3 NM_004369.3(COL6A3): c.3445C> T (p.Arg1149Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs113360085 2:238283289-238283289 2:237374646-237374646
171 COL6A2 NM_001849.3(COL6A2): c.672C> T (p.Thr224=) single nucleotide variant Conflicting interpretations of pathogenicity rs759388890 21:47532449-47532449 21:46112535-46112535
172 COL6A2 NM_001849.3(COL6A2): c.*5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs377195134 21:47552471-47552471 21:46132557-46132557
173 COL6A3 NM_004369.3(COL6A3): c.776C> T (p.Ala259Val) single nucleotide variant Conflicting interpretations of pathogenicity rs149924028 2:238296761-238296761 2:237388118-237388118
174 COL6A3 NM_004369.3(COL6A3): c.8243C> T (p.Pro2748Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs115595706 2:238249316-238249316 2:237340673-237340673
175 COL6A1 NM_001848.2(COL6A1): c.1708G> A (p.Ala570Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs144358858 21:47419100-47419100 21:45999186-45999186
176 COL6A2 NM_001849.3(COL6A2): c.981C> T (p.Asn327=) single nucleotide variant Conflicting interpretations of pathogenicity rs768836349 21:47536710-47536710 21:46116796-46116796
177 COL6A3 NM_004369.3(COL6A3): c.7849G> A (p.Asp2617Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs138285547 2:238249710-238249710 2:237341067-237341067
178 COL6A3 NM_004369.3(COL6A3): c.6930+4C> T single nucleotide variant Conflicting interpretations of pathogenicity rs375657891 2:238257252-238257252 2:237348609-237348609
179 COL6A3 NM_004369.3(COL6A3): c.7953G> A (p.Met2651Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs369537287 2:238249606-238249606 2:237340963-237340963
180 COL6A3 NM_004369.3(COL6A3): c.7113C> T (p.Gly2371=) single nucleotide variant Conflicting interpretations of pathogenicity rs375729592 2:238253836-238253836 2:237345193-237345193
181 COL6A2 NM_001849.3(COL6A2): c.828G> A (p.Pro276=) single nucleotide variant Conflicting interpretations of pathogenicity rs140790797 21:47535812-47535812 21:46115898-46115898
182 COL6A3 NM_004369.3(COL6A3): c.936C> T (p.Leu312=) single nucleotide variant Conflicting interpretations of pathogenicity rs377629176 2:238296601-238296601 2:237387958-237387958
183 COL6A1 NM_001848.2(COL6A1): c.2875G> A (p.Val959Met) single nucleotide variant Conflicting interpretations of pathogenicity rs200959957 21:47423715-47423715 21:46003801-46003801
184 COL6A3 NM_004369.3(COL6A3): c.1623C> T (p.Ala541=) single nucleotide variant Conflicting interpretations of pathogenicity rs114144694 2:238289832-238289832 2:237381189-237381189
185 COL6A1 NM_001848.2(COL6A1): c.1603G> A (p.Gly535Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs764556767 21:47418339-47418339 21:45998425-45998425
186 COL6A3 NM_004369.3(COL6A3): c.8636C> T (p.Thr2879Met) single nucleotide variant Conflicting interpretations of pathogenicity rs150907698 2:238245107-238245107 2:237336464-237336464
187 COL6A1 NM_001848.2(COL6A1): c.1043C> T (p.Ser348Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs142882745 21:47410727-47410727 21:45990813-45990813
188 COL6A2 NM_001849.3(COL6A2): c.1970-9G> A single nucleotide variant Conflicting interpretations of pathogenicity rs747900252 21:47545690-47545690 21:46125776-46125776
189 COL6A2 NM_001849.3(COL6A2): c.2894G> C (p.Arg965Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs201854898 21:47552300-47552300 21:46132386-46132386
190 COL6A3 NM_004369.3(COL6A3): c.3844G> A (p.Val1282Met) single nucleotide variant Conflicting interpretations of pathogenicity rs535661345 2:238280816-238280816 2:237372173-237372173
191 COL6A2 NM_001849.3(COL6A2): c.1466G> A (p.Arg489Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs61735828 21:47541477-47541477 21:46121563-46121563
192 COL6A3 NM_004369.3(COL6A3): c.5833G> C (p.Val1945Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs113332380 2:238274346-238274346 2:237365703-237365703
193 COL6A1 NM_001848.2(COL6A1): c.2637C> T (p.Ser879=) single nucleotide variant Conflicting interpretations of pathogenicity rs540554122 21:47423477-47423477 21:46003563-46003563
194 COL6A2 NM_001849.3(COL6A2): c.1496G> A (p.Gly499Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs886042332 21:47541507-47541507 21:46121593-46121593
195 COL6A2 NM_001849.3(COL6A2): c.511G> A (p.Gly171Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs200710788 21:47532288-47532288 21:46112374-46112374
196 COL6A1 NM_001848.2(COL6A1): c.996C> T (p.Gly332=) single nucleotide variant Conflicting interpretations of pathogenicity rs11702055 21:47410330-47410330 21:45990416-45990416
197 COL6A3 NM_004369.3(COL6A3): c.759C> T (p.Thr253=) single nucleotide variant Conflicting interpretations of pathogenicity rs376087730 2:238296778-238296778 2:237388135-237388135
198 COL6A3 NM_004369.3(COL6A3): c.3902G> A (p.Arg1301Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs148038440 2:238280758-238280758 2:237372115-237372115
199 COL6A3 NM_004369.3(COL6A3): c.5839-3C> T single nucleotide variant Conflicting interpretations of pathogenicity rs112825341 2:238273074-238273074 2:237364431-237364431
200 COL6A1 NM_001848.2(COL6A1): c.1115A> G (p.Glu372Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs149338158 21:47410951-47410951 21:45991037-45991037
201 COL6A1 NM_001848.2(COL6A1): c.2595G> A (p.Thr865=) single nucleotide variant Conflicting interpretations of pathogenicity rs367832752 21:47423435-47423435 21:46003521-46003521
202 COL6A3 NM_004369.3(COL6A3): c.3040A> G (p.Lys1014Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs114284669 2:238285445-238285445 2:237376802-237376802
203 COL6A3 NM_004369.3(COL6A3): c.2305G> A (p.Ala769Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs142719863 2:238287471-238287471 2:237378828-237378828
204 COL6A1 NM_001848.2(COL6A1): c.1182+3G> A single nucleotide variant Conflicting interpretations of pathogenicity rs62215499 21:47411989-47411989 21:45992075-45992075
205 COL6A1 NM_001848.2(COL6A1): c.2635A> G (p.Ser879Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs140534207 21:47423475-47423475 21:46003561-46003561
206 COL6A3 NM_004369.3(COL6A3): c.4156G> A (p.Glu1386Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs146092501 2:238280504-238280504 2:237371861-237371861
207 COL6A3 NM_004369.3(COL6A3): c.6868C> T (p.Arg2290Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs116608946 2:238258801-238258801 2:237350158-237350158
208 COL6A3 NM_004369.3(COL6A3): c.7685T> C (p.Val2562Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs143631346 2:238250788-238250788 2:237342145-237342145
209 COL6A3 NM_004369.3(COL6A3): c.862G> A (p.Asp288Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs115729513 2:238296675-238296675 2:237388032-237388032
210 COL6A1 NM_001848.2(COL6A1): c.349G> A (p.Val117Met) single nucleotide variant Conflicting interpretations of pathogenicity rs150686304 21:47404304-47404304 21:45984390-45984390
211 COL6A3 NM_004369.3(COL6A3): c.1613C> T (p.Thr538Met) single nucleotide variant Conflicting interpretations of pathogenicity rs34741387 2:238289842-238289842 2:237381199-237381199
212 COL6A1 NM_001848.2(COL6A1): c.170C> A (p.Ala57Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs143502850 21:47402620-47402620 21:45982706-45982706
213 COL6A2 NM_001849.3(COL6A2): c.22G> A (p.Val8Met) single nucleotide variant Conflicting interpretations of pathogenicity rs192476178 21:47531412-47531412 21:46111498-46111498
214 COL6A1 NM_001848.2(COL6A1): c.202C> T (p.Arg68Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs137964147 21:47402652-47402652 21:45982738-45982738
215 COL6A1 NM_001848.2(COL6A1): c.1350G> A (p.Pro450=) single nucleotide variant Conflicting interpretations of pathogenicity rs144887329 21:47414095-47414095 21:45994181-45994181
216 COL6A2 NM_001849.3(COL6A2): c.1336G> A (p.Asp446Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs535007570 21:47540432-47540432 21:46120518-46120518
217 COL6A2 NM_001849.3(COL6A2): c.1333-10C> G single nucleotide variant Conflicting interpretations of pathogenicity rs199513044 21:47540419-47540419 21:46120505-46120505
218 COL6A2 NM_001849.3(COL6A2): c.1437T> C (p.Ala479=) single nucleotide variant Conflicting interpretations of pathogenicity rs149077114 21:47541016-47541016 21:46121102-46121102
219 COL6A2 NM_001849.3(COL6A2): c.988G> A (p.Asp330Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs139399166 21:47536717-47536717 21:46116803-46116803
220 COL6A2 NM_001849.3(COL6A2): c.1070C> G (p.Pro357Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs199929757 21:47537804-47537804 21:46117890-46117890
221 COL6A3 NM_004369.3(COL6A3): c.7007C> T (p.Pro2336Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs202092407 2:238256472-238256472 2:237347829-237347829
222 COL6A3 NM_004369.3(COL6A3): c.3287G> A (p.Arg1096His) single nucleotide variant Conflicting interpretations of pathogenicity rs200860322 2:238283447-238283447 2:237374804-237374804
223 COL6A1 NM_001848.2(COL6A1): c.1611C> T (p.Asn537=) single nucleotide variant Conflicting interpretations of pathogenicity rs200023632 21:47418347-47418347 21:45998433-45998433
224 COL6A2 NM_001849.3(COL6A2): c.1162G> A (p.Gly388Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs727503883 21:47538573-47538573 21:46118659-46118659
225 COL6A3 NM_004369.3(COL6A3): c.7401G> A (p.Ser2467=) single nucleotide variant Conflicting interpretations of pathogenicity rs377572272 2:238253260-238253260 2:237344617-237344617
226 COL6A3 NM_004369.3(COL6A3): c.5619C> T (p.His1873=) single nucleotide variant Conflicting interpretations of pathogenicity rs146355600 2:238274560-238274560 2:237365917-237365917
227 COL6A3 NM_004369.3(COL6A3): c.3270C> T (p.Asp1090=) single nucleotide variant Conflicting interpretations of pathogenicity rs113781746 2:238283464-238283464 2:237374821-237374821
228 COL6A3 NM_004369.3(COL6A3): c.5139G> A (p.Gly1713=) single nucleotide variant Conflicting interpretations of pathogenicity rs114338020 2:238275691-238275691 2:237367048-237367048
229 COL6A3 NM_004369.3(COL6A3): c.4849G> A (p.Ala1617Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs200433282 2:238277257-238277257 2:237368614-237368614
230 COL6A3 NM_004369.3(COL6A3): c.1056C> T (p.Leu352=) single nucleotide variant Conflicting interpretations of pathogenicity rs78365682 2:238296481-238296481 2:237387838-237387838
231 COL6A3 NM_004369.3(COL6A3): c.576G> T (p.Pro192=) single nucleotide variant Conflicting interpretations of pathogenicity rs141560881 2:238303363-238303363 2:237394720-237394720
232 COL6A3 NM_004369.3(COL6A3): c.489G> A (p.Ala163=) single nucleotide variant Conflicting interpretations of pathogenicity rs148970984 2:238303450-238303450 2:237394807-237394807
233 COL6A1 NM_001848.2(COL6A1): c.423C> T (p.Leu141=) single nucleotide variant Conflicting interpretations of pathogenicity rs373486149 21:47404378-47404378 21:45984464-45984464
234 COL6A1 NM_001848.2(COL6A1): c.993C> T (p.Asp331=) single nucleotide variant Conflicting interpretations of pathogenicity rs373948031 21:47410327-47410327 21:45990413-45990413
235 COL6A1 NM_001848.2(COL6A1): c.1584G> A (p.Pro528=) single nucleotide variant Conflicting interpretations of pathogenicity rs139243418 21:47418320-47418320 21:45998406-45998406
236 COL6A1 NM_001848.2(COL6A1): c.2709C> T (p.Ala903=) single nucleotide variant Conflicting interpretations of pathogenicity rs139018148 21:47423549-47423549 21:46003635-46003635
237 COL6A2 NM_001849.3(COL6A2): c.2633C> T (p.Ala878Val) single nucleotide variant Conflicting interpretations of pathogenicity rs774521989 21:47552039-47552039 21:46132125-46132125
238 COL6A2 NM_001849.3(COL6A2): c.2096G> A (p.Gly699Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs863224861 21:47545825-47545825 21:46125911-46125911
239 COL6A3 NM_004369.3(COL6A3): c.4006G> A (p.Val1336Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs144051775 2:238280654-238280654 2:237372011-237372011
240 COL6A3 NM_004369.3(COL6A3): c.8168T> C (p.Ile2723Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs373108028 2:238249391-238249391 2:237340748-237340748
241 COL6A3 NM_004369.3(COL6A3): c.3063A> G (p.Pro1021=) single nucleotide variant Conflicting interpretations of pathogenicity rs200098134 2:238285422-238285422 2:237376779-237376779
242 COL6A3 NM_004369.3(COL6A3): c.9351C> T (p.Asp3117=) single nucleotide variant Conflicting interpretations of pathogenicity rs148821986 2:238234345-238234345 2:237325702-237325702
243 COL6A3 NM_004369.3(COL6A3): c.4103C> T (p.Thr1368Met) single nucleotide variant Conflicting interpretations of pathogenicity rs116505603 2:238280557-238280557 2:237371914-237371914
244 COL6A3 NM_004369.3(COL6A3): c.2292C> T (p.Asn764=) single nucleotide variant Conflicting interpretations of pathogenicity rs116066149 2:238287484-238287484 2:237378841-237378841
245 COL6A3 NM_004369.3(COL6A3): c.8819C> T (p.Thr2940Met) single nucleotide variant Conflicting interpretations of pathogenicity rs200626456 2:238244924-238244924 2:237336281-237336281
246 COL6A3 NM_004369.3(COL6A3): c.8724C> T (p.Ala2908=) single nucleotide variant Conflicting interpretations of pathogenicity rs114684687 2:238245019-238245019 2:237336376-237336376
247 COL6A3 NM_004369.3(COL6A3): c.8970G> A (p.Lys2990=) single nucleotide variant Conflicting interpretations of pathogenicity rs113721676 2:238243528-238243528 2:237334885-237334885
248 COL6A1 NM_001848.2(COL6A1): c.2809A> G (p.Lys937Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs117583120 21:47423649-47423649 21:46003735-46003735
249 COL6A3 NM_004369.3(COL6A3): c.7447A> G (p.Lys2483Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs139260335 2:238253214-238253214 2:237344571-237344571
250 COL6A3 NM_004369.3(COL6A3): c.7175-6C> G single nucleotide variant Conflicting interpretations of pathogenicity rs199723531 2:238253492-238253492 2:237344849-237344849
251 COL6A3 NM_004369.3(COL6A3): c.8189C> A (p.Ala2730Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs138466455 2:238249370-238249370 2:237340727-237340727
252 COL6A2 NM_001849.3(COL6A2): c.2517C> T (p.Asp839=) single nucleotide variant Conflicting interpretations of pathogenicity rs113002150 21:47551923-47551923 21:46132009-46132009
253 COL6A2 NM_001849.3(COL6A2): c.2751G> T (p.Val917=) single nucleotide variant Conflicting interpretations of pathogenicity rs111341650 21:47552157-47552157 21:46132243-46132243
254 COL6A2 NM_001849.3(COL6A2): c.2850C> T (p.Gly950=) single nucleotide variant Conflicting interpretations of pathogenicity rs751192681 21:47552256-47552256 21:46132342-46132342
255 COL6A2 NM_001849.3(COL6A2): c.2605G> T (p.Asp869Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs141021828 21:47552011-47552011 21:46132097-46132097
256 COL6A2 NM_001849.3(COL6A2): c.2683A> C (p.Ser895Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs141233891 21:47552089-47552089 21:46132175-46132175
257 COL6A1 NM_001848.2(COL6A1): c.2045G> A (p.Arg682Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs148962954 21:47421963-47421963 21:46002049-46002049
258 COL6A2 NM_001849.3(COL6A2): c.2795C> T (p.Pro932Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs117725825 21:47552201-47552201 21:46132287-46132287
259 COL6A2 NM_001849.3(COL6A2): c.847G> A (p.Gly283Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs267606748 21:47535831-47535831 21:46115917-46115917
260 COL6A1 NM_001848.2(COL6A1): c.350T> C (p.Val117Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs138899581 21:47404305-47404305 21:45984391-45984391
261 COL6A1 NM_001848.2(COL6A1): c.1398+10G> A single nucleotide variant Conflicting interpretations of pathogenicity rs143438559 21:47414153-47414153 21:45994239-45994239
262 COL6A1 NM_001848.2(COL6A1): c.2642C> T (p.Thr881Met) single nucleotide variant Conflicting interpretations of pathogenicity rs150432347 21:47423482-47423482 21:46003568-46003568
263 COL6A2 NM_001849.3(COL6A2): c.759A> G (p.Glu253=) single nucleotide variant Conflicting interpretations of pathogenicity rs140404854 21:47533945-47533945 21:46114031-46114031
264 COL6A3 NM_004369.3(COL6A3): c.1688A> G (p.Asp563Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs112913396 2:238289767-238289767 2:237381124-237381124
265 COL6A2 NM_001849.3(COL6A2): c.1769C> T (p.Thr590Met) single nucleotide variant Conflicting interpretations of pathogenicity rs142709940 21:47544833-47544833 21:46124919-46124919
266 COL6A2 NM_001849.3(COL6A2): c.1970-3C> A single nucleotide variant Conflicting interpretations of pathogenicity rs201879417 21:47545696-47545696 21:46125782-46125782
267 COL6A1 NM_001848.2(COL6A1): c.588+8C> G single nucleotide variant Conflicting interpretations of pathogenicity rs398123638 21:47406607-47406607 21:45986693-45986693
268 COL6A2 NM_001849.3(COL6A2): c.2484G> A (p.Thr828=) single nucleotide variant Conflicting interpretations of pathogenicity rs147199350 21:47551890-47551890 21:46131976-46131976
269 COL6A2 NM_001849.3(COL6A2): c.2580G> A (p.Ala860=) single nucleotide variant Conflicting interpretations of pathogenicity rs146420786 21:47551986-47551986 21:46132072-46132072
270 COL6A2 NM_001849.3(COL6A2): c.2769C> T (p.His923=) single nucleotide variant Conflicting interpretations of pathogenicity rs140419176 21:47552175-47552175 21:46132261-46132261
271 COL6A3 NM_004369.3(COL6A3): c.7258C> T (p.Arg2420Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs150165484 2:238253403-238253403 2:237344760-237344760
272 COL6A3 NM_004369.3(COL6A3): c.3087C> T (p.Asp1029=) single nucleotide variant Conflicting interpretations of pathogenicity rs113066678 2:238283647-238283647 2:237375004-237375004
273 COL6A3 NM_004369.3(COL6A3): c.4503C> T (p.Asp1501=) single nucleotide variant Conflicting interpretations of pathogenicity rs115551245 2:238277603-238277603 2:237368960-237368960
274 COL6A3 NM_004369.3(COL6A3): c.6138C> T (p.Ile2046=) single nucleotide variant Conflicting interpretations of pathogenicity rs115401779 2:238270400-238270400 2:237361757-237361757
275 COL6A1 NM_001848.2(COL6A1): c.381C> T (p.Thr127=) single nucleotide variant Conflicting interpretations of pathogenicity rs75180385 21:47404336-47404336 21:45984422-45984422
276 COL6A1 NM_001848.2(COL6A1): c.2694G> A (p.Thr898=) single nucleotide variant Conflicting interpretations of pathogenicity rs372931456 21:47423534-47423534 21:46003620-46003620
277 COL6A3 NM_004369.3(COL6A3): c.7446C> G (p.Ser2482=) single nucleotide variant Conflicting interpretations of pathogenicity rs1439207088 2:238253215-238253215 2:237344572-237344572
278 COL6A1 NM_001848.2(COL6A1): c.1741-6G> A single nucleotide variant Conflicting interpretations of pathogenicity rs200334019 21:47419565-47419565 21:45999651-45999651
279 COL6A1 NM_001848.2(COL6A1): c.1945G> A (p.Glu649Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs764129993 21:47421289-47421289 21:46001375-46001375
280 COL6A3 NM_004369.3(COL6A3): c.1620A> G (p.Ser540=) single nucleotide variant Conflicting interpretations of pathogenicity rs200205650 2:238289835-238289835 2:237381192-237381192
281 COL6A3 NM_004369.3(COL6A3): c.6372T> C (p.Pro2124=) single nucleotide variant Conflicting interpretations of pathogenicity rs894679602 2:238267714-238267714 2:237359071-237359071
282 COL6A2 NM_001849.3(COL6A2): c.2997G> A (p.Glu999=) single nucleotide variant Conflicting interpretations of pathogenicity rs751494076 21:47552403-47552403 21:46132489-46132489
283 COL6A2 NM_001849.3(COL6A2): c.1944C> T (p.Ile648=) single nucleotide variant Conflicting interpretations of pathogenicity rs148178994 21:47545506-47545506 21:46125592-46125592
284 COL6A1 NM_001848.2(COL6A1): c.624G> A (p.Thr208=) single nucleotide variant Conflicting interpretations of pathogenicity rs573282005 21:47406893-47406893 21:45986979-45986979
285 COL6A1 NM_001848.2(COL6A1): c.609C> T (p.Ile203=) single nucleotide variant Conflicting interpretations of pathogenicity rs369590506 21:47406878-47406878 21:45986964-45986964
286 COL6A2 NM_001849.3(COL6A2): c.426G> A (p.Thr142=) single nucleotide variant Conflicting interpretations of pathogenicity rs149480738 21:47532203-47532203 21:46112289-46112289
287 COL6A2 NM_001849.3(COL6A2): c.2627G> A (p.Arg876His) single nucleotide variant Conflicting interpretations of pathogenicity rs1012567148 21:47552033-47552033 21:46132119-46132119
288 COL6A2 NM_001849.3(COL6A2): c.2301C> T (p.His767=) single nucleotide variant Conflicting interpretations of pathogenicity rs138371054 21:47546030-47546030 21:46126116-46126116
289 COL6A3 NM_004369.3(COL6A3): c.8457C> T (p.Phe2819=) single nucleotide variant Conflicting interpretations of pathogenicity rs138683303 2:238249102-238249102 2:237340459-237340459
290 COL6A3 NM_004369.3(COL6A3): c.6799G> A (p.Gly2267Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs749855513 2:238259790-238259790 2:237351147-237351147
291 COL6A3 NM_004369.3(COL6A3): c.7702C> T (p.Leu2568=) single nucleotide variant Conflicting interpretations of pathogenicity rs201479636 2:238250771-238250771 2:237342128-237342128
292 COL6A2 NM_001849.3(COL6A2): c.344G> A (p.Arg115Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs145352569 21:47532121-47532121 21:46112207-46112207
293 COL6A2 NM_001849.3(COL6A2): c.987C> T (p.Thr329=) single nucleotide variant Conflicting interpretations of pathogenicity rs748215430 21:47536716-47536716 21:46116802-46116802
294 COL6A1 NM_001848.2(COL6A1): c.846_854del (p.Glu282_Gly284del) deletion Conflicting interpretations of pathogenicity rs1556425474 21:47409039-47409047 21:45989125-45989133
295 COL6A1 NM_001848.2(COL6A1): c.2820G> A (p.Leu940=) single nucleotide variant Conflicting interpretations of pathogenicity rs111451684 21:47423660-47423660 21:46003746-46003746
296 COL6A3 NM_004369.3(COL6A3): c.6167G> A (p.Gly2056Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs1064795558 2:238269807-238269807 2:237361164-237361164
297 COL6A2 NM_001849.3(COL6A2): c.2565C> T (p.Phe855=) single nucleotide variant Conflicting interpretations of pathogenicity rs774805224 21:47551971-47551971 21:46132057-46132057
298 COL6A1 NM_001848.2(COL6A1): c.1782C> T (p.Cys594=) single nucleotide variant Conflicting interpretations of pathogenicity rs745847824 21:47420250-47420250 21:46000336-46000336
299 COL6A2 NM_001849.3(COL6A2): c.1605C> T (p.Pro535=) single nucleotide variant Conflicting interpretations of pathogenicity rs377476546 21:47542442-47542442 21:46122528-46122528
300 COL6A3 NM_004369.3(COL6A3): c.1977C> T (p.Arg659=) single nucleotide variant Conflicting interpretations of pathogenicity rs141280228 2:238287799-238287799 2:237379156-237379156
301 COL6A3 NM_004369.3(COL6A3): c.4104G> A (p.Thr1368=) single nucleotide variant Conflicting interpretations of pathogenicity rs777649526 2:238280556-238280556 2:237371913-237371913
302 COL6A3 NM_004369.3(COL6A3): c.4671C> T (p.Ser1557=) single nucleotide variant Conflicting interpretations of pathogenicity rs116760648 2:238277435-238277435 2:237368792-237368792
303 COL6A3 NM_004369.3(COL6A3): c.2487C> T (p.Leu829=) single nucleotide variant Conflicting interpretations of pathogenicity rs752530417 2:238287289-238287289 2:237378646-237378646
304 COL6A3 NM_004369.3(COL6A3): c.1293G> A (p.Pro431=) single nucleotide variant Conflicting interpretations of pathogenicity rs376912950 2:238296244-238296244 2:237387601-237387601
305 COL6A2 NM_001849.3(COL6A2): c.1836C> T (p.Gly612=) single nucleotide variant Conflicting interpretations of pathogenicity rs141257132 21:47545398-47545398 21:46125484-46125484
306 COL6A2 NM_001849.3(COL6A2): c.1458+9_1458+14del deletion Conflicting interpretations of pathogenicity rs762583937 21:47541046-47541051 21:46121132-46121137
307 COL6A2 NM_001849.3(COL6A2): c.1606G> A (p.Glu536Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs143338050 21:47542443-47542443 21:46122529-46122529
308 COL6A1 NM_001848.2(COL6A1): c.1399-8C> G single nucleotide variant Conflicting interpretations of pathogenicity rs749529856 21:47417327-47417327 21:45997413-45997413
309 COL6A1 NM_001848.2(COL6A1): c.1959C> T (p.Phe653=) single nucleotide variant Conflicting interpretations of pathogenicity rs112104768 21:47421877-47421877 21:46001963-46001963
310 COL6A1 NM_001848.2(COL6A1): c.2911G> A (p.Val971Met) single nucleotide variant Conflicting interpretations of pathogenicity rs769795690 21:47423751-47423751 21:46003837-46003837
311 COL6A1 NM_001848.2(COL6A1): c.2343G> A (p.Gln781=) single nucleotide variant Uncertain significance rs755487987 21:47422533-47422533 21:46002619-46002619
312 COL6A1 NM_001848.2(COL6A1): c.2437A> G (p.Lys813Glu) single nucleotide variant Uncertain significance rs936641232 21:47423036-47423036 21:46003122-46003122
313 COL6A2 NM_001849.3(COL6A2): c.2843C> G (p.Thr948Arg) single nucleotide variant Uncertain significance rs367980010 21:47552249-47552249 21:46132335-46132335
314 COL6A2 NM_001849.3(COL6A2): c.1641_1667del (p.Gly549_Pro557del) deletion Uncertain significance rs1555874762 21:47542821-47542847 21:46122907-46122933
315 COL6A2 NM_001849.3(COL6A2): c.340G> A (p.Asp114Asn) single nucleotide variant Uncertain significance rs969934621 21:47532117-47532117 21:46112203-46112203
316 COL6A2 NM_001849.3(COL6A2): c.679G> C (p.Asp227His) single nucleotide variant Uncertain significance rs35881321 21:47532456-47532456 21:46112542-46112542
317 COL6A2 NM_001849.3(COL6A2): c.790C> T (p.Arg264Cys) single nucleotide variant Uncertain significance rs760263812 21:47533976-47533976 21:46114062-46114062
318 COL6A2 NM_001849.3(COL6A2): c.827C> T (p.Pro276Leu) single nucleotide variant Uncertain significance rs757488307 21:47535811-47535811 21:46115897-46115897
319 COL6A2 NM_001849.3(COL6A2): c.1666G> A (p.Glu556Lys) single nucleotide variant Uncertain significance rs368878639 21:47542846-47542846 21:46122932-46122932
320 COL6A2 NM_001849.3(COL6A2): c.863C> T (p.Pro288Leu) single nucleotide variant Uncertain significance rs745566911 21:47535930-47535930 21:46116016-46116016
321 COL6A2 NM_001849.3(COL6A2): c.487G> A (p.Gly163Ser) single nucleotide variant Uncertain significance rs769456044 21:47532264-47532264 21:46112350-46112350
322 COL6A2 NM_001849.3(COL6A2): c.2173G> T (p.Val725Leu) single nucleotide variant Uncertain significance rs1555875749 21:47545902-47545902 21:46125988-46125988
323 COL6A2 NM_001849.3(COL6A2): c.2189T> G (p.Ile730Ser) single nucleotide variant Uncertain significance rs1555875759 21:47545918-47545918 21:46126004-46126004
324 COL6A2 NM_001849.3(COL6A2): c.2334C> A (p.Asp778Glu) single nucleotide variant Uncertain significance rs764165623 21:47546063-47546063 21:46126149-46126149
325 COL6A2 NM_001849.3(COL6A2): c.2470G> A (p.Val824Met) single nucleotide variant Uncertain significance rs758758266 21:47551876-47551876 21:46131962-46131962
326 COL6A3 NM_004369.3(COL6A3): c.2206G> A (p.Gly736Ser) single nucleotide variant Uncertain significance rs150008830 2:238287570-238287570 2:237378927-237378927
327 COL6A3 NM_004369.3(COL6A3): c.1204G> C (p.Val402Leu) single nucleotide variant Uncertain significance rs746277006 2:238296333-238296333 2:237387690-237387690
328 COL6A1 NM_001848.2(COL6A1): c.1095_1096inv (p.Ala366Thr) inversion Uncertain significance 21:47410931-47410932 21:45991017-45991018
329 COL6A3 NM_004369.3(COL6A3): c.6117G> C (p.Gln2039His) single nucleotide variant Uncertain significance rs750063736 2:238270421-238270421 2:237361778-237361778
330 COL6A3 NM_004369.3(COL6A3): c.5869G> A (p.Gly1957Arg) single nucleotide variant Uncertain significance rs554219567 2:238273041-238273041 2:237364398-237364398
331 COL6A3 NM_004369.3(COL6A3): c.5534G> C (p.Gly1845Ala) single nucleotide variant Uncertain significance rs747200439 2:238274645-238274645 2:237366002-237366002
332 COL6A3 NM_004369.3(COL6A3): c.4917C> G (p.Asp1639Glu) single nucleotide variant Uncertain significance rs1553556773 2:238275913-238275913 2:237367270-237367270
333 COL6A3 NM_004369.3(COL6A3): c.4309A> T (p.Ile1437Phe) single nucleotide variant Uncertain significance rs144314743 2:238277797-238277797 2:237369154-237369154
334 COL6A1 NM_001848.2(COL6A1): c.631C> G (p.Arg211Gly) single nucleotide variant Uncertain significance rs375217284 21:47406900-47406900 21:45986986-45986986
335 COL6A1 NM_001848.2(COL6A1): c.1540G> A (p.Ala514Thr) single nucleotide variant Uncertain significance rs760815168 21:47418050-47418050 21:45998136-45998136
336 COL6A1 NM_001848.2(COL6A1): c.1745C> T (p.Pro582Leu) single nucleotide variant Uncertain significance rs766478019 21:47419575-47419575 21:45999661-45999661
337 COL6A1 NM_001848.2(COL6A1): c.1877T> C (p.Ile626Thr) single nucleotide variant Uncertain significance rs781626943 21:47421221-47421221 21:46001307-46001307
338 COL6A1 NM_001848.2(COL6A1): c.1930C> T (p.Arg644Trp) single nucleotide variant Uncertain significance rs146622557 21:47421274-47421274 21:46001360-46001360
339 COL6A1 NM_001848.2(COL6A1): c.2615G> A (p.Arg872Gln) single nucleotide variant Uncertain significance rs377586358 21:47423455-47423455 21:46003541-46003541
340 COL6A1 NM_001848.2(COL6A1): c.2705G> A (p.Ser902Asn) single nucleotide variant Uncertain significance rs757422397 21:47423545-47423545 21:46003631-46003631
341 COL6A3 NM_004369.3(COL6A3): c.3725A> C (p.Gln1242Pro) single nucleotide variant Uncertain significance rs1553559646 2:238280935-238280935 2:237372292-237372292
342 COL6A3 NM_004369.3(COL6A3): c.8644C> T (p.Pro2882Ser) single nucleotide variant Uncertain significance rs1553544899 2:238245099-238245099 2:237336456-237336456
343 COL6A3 NM_004369.3(COL6A3): c.2502C> G (p.Ser834Arg) single nucleotide variant Uncertain significance rs767437328 2:238285983-238285983 2:237377340-237377340
344 COL6A3 NM_004369.3(COL6A3): c.8201G> A (p.Arg2734Gln) single nucleotide variant Uncertain significance rs115116398 2:238249358-238249358 2:237340715-237340715
345 COL6A3 NM_004369.3(COL6A3): c.7402G> A (p.Val2468Ile) single nucleotide variant Uncertain significance rs527516269 2:238253259-238253259 2:237344616-237344616
346 COL6A3 NM_004369.3(COL6A3): c.1785C> G (p.Ile595Met) single nucleotide variant Uncertain significance rs114278376 2:238289670-238289670 2:237381027-237381027
347 COL6A3 NM_004369.3(COL6A3): c.6613C> A (p.Pro2205Thr) single nucleotide variant Uncertain significance rs748768672 2:238263556-238263556 2:237354913-237354913
348 COL6A3 NM_004369.3(COL6A3): c.9041C> T (p.Pro3014Leu) single nucleotide variant Uncertain significance rs758774990 2:238243457-238243457 2:237334814-237334814
349 COL6A3 NM_004369.3(COL6A3): c.6982C> A (p.Pro2328Thr) single nucleotide variant Uncertain significance rs371637449 2:238256497-238256497 2:237347854-237347854
350 COL6A3 NM_004369.3(COL6A3): c.5794G> A (p.Val1932Ile) single nucleotide variant Uncertain significance rs113817270 2:238274385-238274385 2:237365742-237365742
351 COL6A3 NM_004369.3(COL6A3): c.5752C> A (p.Arg1918Ser) single nucleotide variant Uncertain significance rs750367811 2:238274427-238274427 2:237365784-237365784
352 COL6A3 NM_004369.3(COL6A3): c.5128G> A (p.Val1710Ile) single nucleotide variant Uncertain significance rs773631759 2:238275702-238275702 2:237367059-237367059
353 COL6A3 NM_004369.3(COL6A3): c.4873G> T (p.Val1625Leu) single nucleotide variant Uncertain significance rs398124121 2:238277233-238277233 2:237368590-237368590
354 COL6A3 NM_004369.3(COL6A3): c.4742C> G (p.Thr1581Arg) single nucleotide variant Uncertain significance rs1156524068 2:238277364-238277364 2:237368721-237368721
355 COL6A3 NM_004369.3(COL6A3): c.3545C> T (p.Pro1182Leu) single nucleotide variant Uncertain significance rs768064422 2:238283189-238283189 2:237374546-237374546
356 COL6A3 NM_004369.3(COL6A3): c.2972C> T (p.Ala991Val) single nucleotide variant Uncertain significance rs202185764 2:238285513-238285513 2:237376870-237376870
357 COL6A3 NM_004369.3(COL6A3): c.8621C> T (p.Thr2874Met) single nucleotide variant Uncertain significance rs779335085 2:238245122-238245122 2:237336479-237336479
358 COL6A3 NM_004369.3(COL6A3): c.7475C> T (p.Ser2492Leu) single nucleotide variant Uncertain significance rs754480145 2:238253186-238253186 2:237344543-237344543
359 COL6A3 NM_004369.3(COL6A3): c.7331G> C (p.Arg2444Pro) single nucleotide variant Uncertain significance rs895701604 2:238253330-238253330 2:237344687-237344687
360 COL6A3 NM_004369.3(COL6A3): c.1639G> A (p.Glu547Lys) single nucleotide variant Uncertain significance rs1278327904 2:238289816-238289816 2:237381173-237381173
361 COL6A3 NM_004369.3(COL6A3): c.1061G> A (p.Ser354Asn) single nucleotide variant Uncertain significance rs1416475329 2:238296476-238296476 2:237387833-237387833
362 COL6A3 NM_004369.3(COL6A3): c.7103G> A (p.Gly2368Asp) single nucleotide variant Uncertain significance rs746420745 2:238253846-238253846 2:237345203-237345203
363 COL6A3 NM_004369.3(COL6A3): c.5657G> A (p.Arg1886His) single nucleotide variant Uncertain significance rs368379003 2:238274522-238274522 2:237365879-237365879
364 COL6A3 NM_004369.3(COL6A3): c.5326G> T (p.Val1776Phe) single nucleotide variant Uncertain significance rs754788931 2:238275504-238275504 2:237366861-237366861
365 COL6A3 NM_004369.3(COL6A3): c.4684G> T (p.Val1562Leu) single nucleotide variant Uncertain significance rs1553557605 2:238277422-238277422 2:237368779-237368779
366 COL6A3 NM_004369.3(COL6A3): c.4534T> A (p.Ser1512Thr) single nucleotide variant Uncertain significance rs1553557796 2:238277572-238277572 2:237368929-237368929
367 COL6A3 NM_004369.3(COL6A3): c.2958C> G (p.Ile986Met) single nucleotide variant Uncertain significance rs145203676 2:238285527-238285527 2:237376884-237376884
368 COL6A3 NM_004369.3(COL6A3): c.2895G> T (p.Gln965His) single nucleotide variant Uncertain significance rs775993027 2:238285590-238285590 2:237376947-237376947
369 COL6A2 NM_001849.3(COL6A2): c.2134G> T (p.Asp712Tyr) single nucleotide variant Uncertain significance rs375608173 21:47545863-47545863 21:46125949-46125949
370 COL6A3 NM_004369.3(COL6A3): c.4691G> A (p.Arg1564His) single nucleotide variant Uncertain significance rs368151192 2:238277415-238277415 2:237368772-237368772
371 COL6A3 NM_004369.3(COL6A3): c.4108G> A (p.Ala1370Thr) single nucleotide variant Uncertain significance rs372234605 2:238280552-238280552 2:237371909-237371909
372 COL6A3 NM_004369.3(COL6A3): c.5909G> A (p.Arg1970His) single nucleotide variant Uncertain significance rs368635334 2:238273001-238273001 2:237364358-237364358
373 COL6A3 NM_004369.3(COL6A3): c.7948G> A (p.Asp2650Asn) single nucleotide variant Uncertain significance rs890268146 2:238249611-238249611 2:237340968-237340968
374 COL6A2 NM_001849.3(COL6A2): c.2986G> A (p.Val996Met) single nucleotide variant Uncertain significance rs142432514 21:47552392-47552392 21:46132478-46132478
375 COL6A3 NM_004369.3(COL6A3): c.5734G> A (p.Glu1912Lys) single nucleotide variant Uncertain significance rs113251155 2:238274445-238274445 2:237365802-237365802
376 COL6A3 NM_004369.3(COL6A3): c.5165G> A (p.Gly1722Asp) single nucleotide variant Uncertain significance rs1553556546 2:238275665-238275665 2:237367022-237367022
377 COL6A3 NM_004369.3(COL6A3): c.5068G> A (p.Glu1690Lys) single nucleotide variant Uncertain significance rs144451523 2:238275762-238275762 2:237367119-237367119
378 COL6A3 NM_004369.3(COL6A3): c.5743C> T (p.Arg1915Trp) single nucleotide variant Uncertain significance rs201938007 2:238274436-238274436 2:237365793-237365793
379 COL6A2 NM_001849.3(COL6A2): c.2575G> A (p.Val859Met) single nucleotide variant Uncertain significance rs370446082 21:47551981-47551981 21:46132067-46132067
380 COL6A2 NM_001849.3(COL6A2): c.2917G> A (p.Val973Met) single nucleotide variant Uncertain significance rs145959270 21:47552323-47552323 21:46132409-46132409
381 COL6A1 NM_001848.2(COL6A1): c.1342G> A (p.Ala448Thr) single nucleotide variant Uncertain significance rs886057153 21:47414087-47414087 21:45994173-45994173
382 COL6A2 NM_001849.3(COL6A2): c.2591C> T (p.Thr864Met) single nucleotide variant Uncertain significance rs200488881 21:47551997-47551997 21:46132083-46132083
383 COL6A2 NM_001849.3(COL6A2): c.2788C> T (p.Arg930Cys) single nucleotide variant Uncertain significance rs886057168 21:47552194-47552194 21:46132280-46132280
384 COL6A3 NM_004369.3(COL6A3): c.3809G> A (p.Arg1270Gln) single nucleotide variant Uncertain significance rs1057518127 2:238280851-238280851 2:237372208-237372208
385 COL6A3 NM_004369.3(COL6A3): c.1867C> T (p.Pro623Ser) single nucleotide variant Uncertain significance rs372022185 2:238289588-238289588 2:237380945-237380945
386 COL6A1 NM_001848.2(COL6A1): c.2746G> A (p.Val916Ile) single nucleotide variant Uncertain significance rs563043611 21:47423586-47423586 21:46003672-46003672
387 COL6A3 NM_004369.3(COL6A3): c.4240G> C (p.Glu1414Gln) single nucleotide variant Uncertain significance rs539986030 2:238280420-238280420 2:237371777-237371777
388 COL6A3 NM_004369.3(COL6A3): c.3668T> C (p.Leu1223Pro) single nucleotide variant Uncertain significance rs772944531 2:238283066-238283066 2:237374423-237374423
389 COL6A3 NM_004369.3(COL6A3): c.3549C> G (p.Asp1183Glu) single nucleotide variant Uncertain significance rs762240306 2:238283185-238283185 2:237374542-237374542
390 COL6A1 NM_001848.2(COL6A1): c.1845_1847CCT[1] (p.Leu617del) short repeat Uncertain significance rs1085307560 21:47421192-47421194 21:46001278-46001280
391 COL6A3 NM_004369.3(COL6A3): c.8634_8651del (p.2875_2880KPVTTT[1]) deletion Uncertain significance rs780678900 2:238245092-238245109 2:237336449-237336466
392 COL6A1 NM_001848.2(COL6A1): c.631C> T (p.Arg211Cys) single nucleotide variant Uncertain significance rs375217284 21:47406900-47406900 21:45986986-45986986
393 COL6A3 NM_004369.3(COL6A3): c.8437G> A (p.Gly2813Arg) single nucleotide variant Uncertain significance rs146131332 2:238249122-238249122 2:237340479-237340479
394 COL6A1 NM_001848.2(COL6A1): c.2569G> A (p.Glu857Lys) single nucleotide variant Uncertain significance rs570688674 21:47423409-47423409 21:46003495-46003495
395 COL6A3 NM_004369.3(COL6A3): c.9344C> T (p.Pro3115Leu) single nucleotide variant Uncertain significance rs138109666 2:238234352-238234352 2:237325709-237325709
396 COL6A3 NM_004369.3(COL6A3): c.6451G> C (p.Val2151Leu) single nucleotide variant Uncertain significance rs768565928 2:238267184-238267184 2:237358541-237358541
397 COL6A3 NM_004369.3(COL6A3): c.5393G> A (p.Arg1798His) single nucleotide variant Uncertain significance rs371441617 2:238275437-238275437 2:237366794-237366794
398 COL6A3 NM_004369.3(COL6A3): c.4432G> A (p.Val1478Met) single nucleotide variant Uncertain significance rs374493032 2:238277674-238277674 2:237369031-237369031
399 COL6A3 NM_004369.3(COL6A3): c.3598G> T (p.Val1200Phe) single nucleotide variant Uncertain significance rs779028054 2:238283136-238283136 2:237374493-237374493
400 COL6A3 NM_004369.3(COL6A3): c.3220G> A (p.Asp1074Asn) single nucleotide variant Uncertain significance rs778403814 2:238283514-238283514 2:237374871-237374871
401 COL6A1 NM_001848.2(COL6A1): c.2876T> C (p.Val959Ala) single nucleotide variant Uncertain significance rs144814689 21:47423716-47423716 21:46003802-46003802
402 COL6A3 deletion Uncertain significance
403 COL6A3 deletion Uncertain significance
404 COL6A3 NM_004369.3(COL6A3): c.6182G> A (p.Arg2061Gln) single nucleotide variant Uncertain significance rs376715966 2:238269792-238269792 2:237361149-237361149
405 COL6A3 NM_004369.3(COL6A3): c.9087T> A (p.Asp3029Glu) single nucleotide variant Uncertain significance rs1553544136 2:238243411-238243411 2:237334768-237334768
406 COL6A3 NM_004369.3(COL6A3): c.8615C> T (p.Thr2872Met) single nucleotide variant Uncertain significance rs759009226 2:238245128-238245128 2:237336485-237336485
407 COL6A3 NM_004369.3(COL6A3): c.8440A> T (p.Arg2814Trp) single nucleotide variant Uncertain significance rs1553546042 2:238249119-238249119 2:237340476-237340476
408 COL6A3 NM_004369.3(COL6A3): c.7256G> C (p.Gly2419Ala) single nucleotide variant Uncertain significance rs1339553173 2:238253405-238253405 2:237344762-237344762
409 COL6A2 NM_001849.3(COL6A2): c.167G> A (p.Ser56Asn) single nucleotide variant Uncertain significance rs1555871311 21:47531944-47531944 21:46112030-46112030
410 COL6A2 NM_001849.3(COL6A2): c.289G> A (p.Gly97Ser) single nucleotide variant Uncertain significance rs750027302 21:47532066-47532066 21:46112152-46112152
411 COL6A1 NM_001848.2(COL6A1): c.1379T> C (p.Val460Ala) single nucleotide variant Uncertain significance rs140735590 21:47414124-47414124 21:45994210-45994210
412 COL6A1 NM_001848.2(COL6A1): c.1729G> A (p.Glu577Lys) single nucleotide variant Uncertain significance rs552634753 21:47419121-47419121 21:45999207-45999207
413 COL6A1 NM_001848.2(COL6A1): c.1855G> A (p.Val619Met) single nucleotide variant Uncertain significance rs150938324 21:47421199-47421199 21:46001285-46001285
414 COL6A2 NM_001849.3(COL6A2): c.1921G> A (p.Val641Met) single nucleotide variant Uncertain significance rs1032420539 21:47545483-47545483 21:46125569-46125569
415 COL6A2 NM_001849.3(COL6A2): c.1925T> C (p.Val642Ala) single nucleotide variant Uncertain significance rs760227367 21:47545487-47545487 21:46125573-46125573
416 COL6A1 NM_001848.2(COL6A1): c.286G> A (p.Glu96Lys) single nucleotide variant Uncertain significance rs759023976 21:47404241-47404241 21:45984327-45984327
417 COL6A2 NM_001849.3(COL6A2): c.2773A> C (p.Ile925Leu) single nucleotide variant Uncertain significance rs772894756 21:47552179-47552179 21:46132265-46132265
418 COL6A2 NM_001849.3(COL6A2): c.2905G> A (p.Val969Met) single nucleotide variant Uncertain significance rs763443381 21:47552311-47552311 21:46132397-46132397
419 COL6A2 NM_001849.3(COL6A2): c.2927T> C (p.Leu976Ser) single nucleotide variant Uncertain significance rs200200671 21:47552333-47552333 21:46132419-46132419
420 COL6A2 NM_001849.3(COL6A2): c.3047G> A (p.Arg1016His) single nucleotide variant Uncertain significance rs376368468 21:47552453-47552453 21:46132539-46132539
421 COL6A1 NM_001848.2(COL6A1): c.880C> G (p.Pro294Ala) single nucleotide variant Uncertain significance rs141572895 21:47409543-47409543 21:45989629-45989629
422 COL6A1 NM_001848.2(COL6A1): c.2784C> T (p.Arg928=) single nucleotide variant Uncertain significance rs775569169 21:47423624-47423624 21:46003710-46003710
423 COL6A1 NM_001848.2(COL6A1): c.14G> A (p.Arg5His) single nucleotide variant Uncertain significance rs1556423460 21:47401778-47401778 21:45981864-45981864
424 COL6A1 NM_001848.2(COL6A1): c.1190C> T (p.Pro397Leu) single nucleotide variant Uncertain significance rs746386684 21:47412085-47412085 21:45992171-45992171
425 COL6A2 NM_001849.3(COL6A2): c.2129C> A (p.Ala710Asp) single nucleotide variant Uncertain significance rs1555875708 21:47545858-47545858 21:46125944-46125944
426 COL6A1 NM_001848.2(COL6A1): c.2863A> G (p.Ile955Val) single nucleotide variant Uncertain significance rs373070436 21:47423703-47423703 21:46003789-46003789
427 COL6A3 NM_004369.3(COL6A3): c.1740T> G (p.Phe580Leu) single nucleotide variant Uncertain significance rs1553562483 2:238289715-238289715 2:237381072-237381072
428 COL6A3 NM_004369.3(COL6A3): c.3664C> T (p.Pro1222Ser) single nucleotide variant Uncertain significance rs1553560314 2:238283070-238283070 2:237374427-237374427
429 COL6A3 NM_004369.3(COL6A3): c.2029C> T (p.Arg677Cys) single nucleotide variant Uncertain significance rs137923508 2:238287747-238287747 2:237379104-237379104
430 COL6A3 NM_004369.3(COL6A3): c.550G> A (p.Ala184Thr) single nucleotide variant Uncertain significance rs767499336 2:238303389-238303389 2:237394746-237394746
431 COL6A2 NM_001849.3(COL6A2): c.2410G> A (p.Val804Ile) single nucleotide variant Uncertain significance rs199896699 21:47546139-47546139 21:46126225-46126225
432 COL6A2 NM_001849.3(COL6A2): c.3029T> G (p.Phe1010Cys) single nucleotide variant Uncertain significance rs1051148162 21:47552435-47552435 21:46132521-46132521
433 COL6A2 NM_001849.3(COL6A2): c.181T> C (p.Ser61Pro) single nucleotide variant Uncertain significance rs990733473 21:47531958-47531958 21:46112044-46112044
434 COL6A3 NM_004369.3(COL6A3): c.8846C> T (p.Pro2949Leu) single nucleotide variant Uncertain significance rs376021820 2:238244897-238244897 2:237336254-237336254
435 COL6A3 NM_004369.3(COL6A3): c.4271G> A (p.Arg1424His) single nucleotide variant Uncertain significance rs149838946 2:238280389-238280389 2:237371746-237371746
436 COL6A1 NM_001848.2(COL6A1): c.2044C> T (p.Arg682Trp) single nucleotide variant Uncertain significance rs777378283 21:47421962-47421962 21:46002048-46002048
437 COL6A1 NM_001848.2(COL6A1): c.2561G> A (p.Arg854His) single nucleotide variant Uncertain significance rs200732314 21:47423401-47423401 21:46003487-46003487
438 COL6A3 NM_004369.3(COL6A3): c.1292C> T (p.Pro431Leu) single nucleotide variant Uncertain significance rs144746928 2:238296245-238296245 2:237387602-237387602
439 COL6A3 NM_004369.3(COL6A3): c.2306C> T (p.Ala769Val) single nucleotide variant Uncertain significance rs753966526 2:238287470-238287470 2:237378827-237378827
440 COL6A3 NM_004369.3(COL6A3): c.5838+5G> A single nucleotide variant Uncertain significance rs1553555753 2:238274336-238274336 2:237365693-237365693
441 COL6A3 NM_004369.3(COL6A3): c.3169A> T (p.Ser1057Cys) single nucleotide variant Uncertain significance rs1553560705 2:238283565-238283565 2:237374922-237374922
442 COL6A3 NM_004369.3(COL6A3): c.7376G> A (p.Arg2459Gln) single nucleotide variant Uncertain significance rs777496872 2:238253285-238253285 2:237344642-237344642
443 COL6A3 NM_004369.3(COL6A3): c.1006C> T (p.Arg336Trp) single nucleotide variant Uncertain significance rs200720222 2:238296531-238296531 2:237387888-237387888
444 COL6A2 NM_001849.3(COL6A2): c.2848G> A (p.Gly950Ser) single nucleotide variant Uncertain significance rs147054208 21:47552254-47552254 21:46132340-46132340
445 COL6A2 NM_001849.3(COL6A2): c.1770G> A (p.Thr590=) single nucleotide variant Uncertain significance rs150999832 21:47544834-47544834 21:46124920-46124920
446 COL6A3 NM_004369.3(COL6A3): c.3741G> C (p.Glu1247Asp) single nucleotide variant Uncertain significance rs577927810 2:238280919-238280919 2:237372276-237372276
447 COL6A2 NM_001849.3(COL6A2): c.2471T> C (p.Val824Ala) single nucleotide variant Uncertain significance rs1259128571 21:47551877-47551877 21:46131963-46131963
448 COL6A2 NM_001849.3(COL6A2): c.2422+6C> T single nucleotide variant Uncertain significance rs371950486 21:47546157-47546157 21:46126243-46126243
449 COL6A2 NM_001849.3(COL6A2): c.1762G> A (p.Gly588Ser) single nucleotide variant Uncertain significance rs139488626 21:47544826-47544826 21:46124912-46124912
450 COL6A2 NM_001849.3(COL6A2): c.3004T> C (p.Tyr1002His) single nucleotide variant Uncertain significance rs527236952 21:47552410-47552410 21:46132496-46132496
451 COL6A2 NM_001849.3(COL6A2): c.1078G> T (p.Ala360Ser) single nucleotide variant Uncertain significance rs1555873523 21:47537812-47537812 21:46117898-46117898
452 COL6A2 NM_001849.3(COL6A2): c.2407G> A (p.Asp803Asn) single nucleotide variant Uncertain significance rs761913437 21:47546136-47546136 21:46126222-46126222
453 COL6A2 NM_001849.3(COL6A2): c.2802C> T (p.Gly934=) single nucleotide variant Uncertain significance rs151295731 21:47552208-47552208 21:46132294-46132294
454 COL6A2 NM_001849.3(COL6A2): c.2988dup (p.Phe997fs) duplication Uncertain significance rs1555877364 21:47552394-47552394 21:46132480-46132480
455 COL6A2 NM_001849.3(COL6A2): c.1913T> G (p.Val638Gly) single nucleotide variant Uncertain significance rs141919484 21:47545475-47545475 21:46125561-46125561
456 COL6A1 NM_001848.2(COL6A1): c.621C> A (p.His207Gln) single nucleotide variant Uncertain significance rs866987981 21:47406890-47406890 21:45986976-45986976
457 COL6A1 NM_001848.2(COL6A1): c.1056+5G> A single nucleotide variant Uncertain significance rs886044511 21:47410745-47410745 21:45990831-45990831
458 COL6A1 NM_001848.2(COL6A1): c.1397C> T (p.Pro466Leu) single nucleotide variant Uncertain significance rs746962124 21:47414142-47414142 21:45994228-45994228
459 COL6A2 NM_001849.3(COL6A2): c.2524G> A (p.Glu842Lys) single nucleotide variant Uncertain significance rs571051982 21:47551930-47551930 21:46132016-46132016
460 COL6A2 NM_001849.3(COL6A2): c.2599C> A (p.Arg867=) single nucleotide variant Uncertain significance rs144484744 21:47552005-47552005 21:46132091-46132091
461 COL6A3 NM_004369.3(COL6A3): c.4306G> C (p.Asp1436His) single nucleotide variant Uncertain significance rs1168273415 2:238277800-238277800 2:237369157-237369157
462 COL6A3 NM_004369.3(COL6A3): c.3424G> A (p.Asp1142Asn) single nucleotide variant Uncertain significance rs777599612 2:238283310-238283310 2:237374667-237374667
463 COL6A1 NM_001848.2(COL6A1): c.1508G> A (p.Gly503Glu) single nucleotide variant Uncertain significance rs1556428597 21:47417660-47417660 21:45997746-45997746
464 COL6A1 NM_001848.2(COL6A1): c.2852C> T (p.Thr951Met) single nucleotide variant Uncertain significance rs371111712 21:47423692-47423692 21:46003778-46003778
465 COL6A2 NM_001849.3(COL6A2): c.1053+3A> T single nucleotide variant Uncertain significance rs1555873388 21:47537370-47537370 21:46117456-46117456
466 COL6A2 NM_001849.3(COL6A2): c.1138C> T (p.Arg380Cys) single nucleotide variant Uncertain significance rs142880107 21:47538549-47538549 21:46118635-46118635
467 COL6A2 NM_001849.3(COL6A2): c.1199G> T (p.Gly400Val) single nucleotide variant Uncertain significance rs1555873827 21:47538963-47538963 21:46119049-46119049
468 COL6A2 NM_001849.3(COL6A2): c.1466G> C (p.Arg489Pro) single nucleotide variant Uncertain significance rs61735828 21:47541477-47541477 21:46121563-46121563
469 COL6A2 NM_001849.3(COL6A2): c.698G> A (p.Arg233His) single nucleotide variant Uncertain significance rs146742517 21:47532475-47532475 21:46112561-46112561
470 COL6A1 NM_001848.2(COL6A1): c.1271G> A (p.Arg424Gln) single nucleotide variant Uncertain significance rs761729281 21:47412311-47412311 21:45992397-45992397
471 COL6A1 NM_001848.2(COL6A1): c.1681G> A (p.Asp561Asn) single nucleotide variant Uncertain significance rs140517685 21:47419073-47419073 21:45999159-45999159
472 COL6A1 NM_001848.2(COL6A1): c.2009T> C (p.Met670Thr) single nucleotide variant Uncertain significance rs776241591 21:47421927-47421927 21:46002013-46002013
473 COL6A2 NM_001849.3(COL6A2): c.2237C> T (p.Ala746Val) single nucleotide variant Uncertain significance rs761863452 21:47545966-47545966 21:46126052-46126052
474 COL6A2 NM_001849.3(COL6A2): c.2770G> A (p.Ala924Thr) single nucleotide variant Uncertain significance rs771749652 21:47552176-47552176 21:46132262-46132262
475 COL6A1 NM_001848.2(COL6A1): c.554A> G (p.Lys185Arg) single nucleotide variant Uncertain significance rs754667407 21:47406565-47406565 21:45986651-45986651
476 COL6A3 NM_004369.3(COL6A3): c.6210C> T (p.Pro2070=) single nucleotide variant Uncertain significance rs774374140 2:238269764-238269764 2:237361121-237361121
477 COL6A3 NM_004369.3(COL6A3): c.9407G> A (p.Ser3136Asn) single nucleotide variant Uncertain significance rs759514583 2:238234289-238234289 2:237325646-237325646
478 COL6A3 NM_004369.3(COL6A3): c.7687G> A (p.Gly2563Arg) single nucleotide variant Uncertain significance rs780964113 2:238250786-238250786 2:237342143-237342143
479 COL6A3 NM_004369.3(COL6A3): c.6956C> T (p.Pro2319Leu) single nucleotide variant Uncertain significance rs751617505 2:238257002-238257002 2:237348359-237348359
480 COL6A3 NM_004369.3(COL6A3): c.4994T> C (p.Ile1665Thr) single nucleotide variant Uncertain significance rs1034783532 2:238275836-238275836 2:237367193-237367193
481 COL6A3 NM_004369.3(COL6A3): c.4270C> T (p.Arg1424Cys) single nucleotide variant Uncertain significance rs768522226 2:238280390-238280390 2:237371747-237371747
482 COL6A3 NM_004369.3(COL6A3): c.3274G> A (p.Val1092Ile) single nucleotide variant Uncertain significance rs576798969 2:238283460-238283460 2:237374817-237374817
483 COL6A3 NM_004369.3(COL6A3): c.3932A> G (p.Asn1311Ser) single nucleotide variant Uncertain significance rs200592625 2:238280728-238280728 2:237372085-237372085
484 COL6A3 NC_000002.11: g.(?_237481970)_(238305480_?)dup duplication Uncertain significance 2:237481970-238305480 2:236573327-237396837
485 COL6A3 NM_004369.3(COL6A3): c.5690C> T (p.Pro1897Leu) single nucleotide variant Uncertain significance rs370806359 2:238274489-238274489 2:237365846-237365846
486 COL6A3 NM_004369.3(COL6A3): c.7311C> G (p.Ser2437Arg) single nucleotide variant Uncertain significance rs781087176 2:238253350-238253350 2:237344707-237344707
487 COL6A3 NM_004369.3(COL6A3): c.3336G> A (p.Leu1112=) single nucleotide variant Uncertain significance rs1553560545 2:238283398-238283398 2:237374755-237374755
488 COL6A3 NM_004369.3(COL6A3): c.709G> A (p.Ala237Thr) single nucleotide variant Uncertain significance rs1553564820 2:238303230-238303230 2:237394587-237394587
489 COL6A3 NM_004369.3(COL6A3): c.7668G> T (p.Gln2556His) single nucleotide variant Uncertain significance rs1553547891 2:238252993-238252993 2:237344350-237344350
490 COL6A3 NM_004369.3(COL6A3): c.6920G> C (p.Arg2307Thr) single nucleotide variant Uncertain significance rs778845754 2:238257266-238257266 2:237348623-237348623
491 COL6A3 NM_004369.3(COL6A3): c.6422C> A (p.Pro2141His) single nucleotide variant Uncertain significance rs369169235 2:238267213-238267213 2:237358570-237358570
492 COL6A1 NM_001848.2(COL6A1): c.2785G> A (p.Glu929Lys) single nucleotide variant Uncertain significance rs145846228 21:47423625-47423625 21:46003711-46003711
493 COL6A1 NM_001848.2(COL6A1): c.1255G> A (p.Gly419Ser) single nucleotide variant Uncertain significance rs745485695 21:47412295-47412295 21:45992381-45992381
494 COL6A1 NM_001848.2(COL6A1): c.2200A> G (p.Thr734Ala) single nucleotide variant Uncertain significance rs562898957 21:47422265-47422265 21:46002351-46002351
495 COL6A3 NM_004369.3(COL6A3): c.6520G> A (p.Gly2174Ser) single nucleotide variant Uncertain significance rs766458058 2:238266477-238266477 2:237357834-237357834
496 COL6A3 NM_004369.3(COL6A3): c.6869G> T (p.Arg2290Leu) single nucleotide variant Uncertain significance rs398124131 2:238258800-238258800 2:237350157-237350157
497 COL6A3 NM_004369.3(COL6A3): c.686C> T (p.Thr229Met) single nucleotide variant Uncertain significance rs141586922 2:238303253-238303253 2:237394610-237394610
498 COL6A3 NM_004369.3(COL6A3): c.6211-4A> G single nucleotide variant Uncertain significance rs398124127 2:238268806-238268806 2:237360163-237360163
499 COL6A1 NM_001848.2(COL6A1): c.2614C> T (p.Arg872Trp) single nucleotide variant Uncertain significance rs368561027 21:47423454-47423454 21:46003540-46003540
500 COL6A2 NM_001849.3(COL6A2): c.2761G> A (p.Val921Met) single nucleotide variant Uncertain significance rs398123650 21:47552167-47552167 21:46132253-46132253
501 COL6A1 NM_001848.2(COL6A1): c.2191C> T (p.Arg731Cys) single nucleotide variant Uncertain significance rs398123635 21:47422256-47422256 21:46002342-46002342
502 COL6A2 NM_001849.3(COL6A2): c.1493G> A (p.Arg498His) single nucleotide variant Uncertain significance rs267606749 21:47541504-47541504 21:46121590-46121590
503 COL6A2 NM_001849.3(COL6A2): c.1870G> A (p.Glu624Lys) single nucleotide variant Uncertain significance rs387906607 21:47545432-47545432 21:46125518-46125518
504 COL6A2 NM_001849.3(COL6A2): c.2527C> T (p.Arg843Trp) single nucleotide variant Uncertain significance rs376880198 21:47551933-47551933 21:46132019-46132019
505 COL6A2 NM_001849.3(COL6A2): c.2371G> A (p.Asp791Asn) single nucleotide variant Uncertain significance rs1273249543 21:47546100-47546100 21:46126186-46126186
506 COL6A2 NM_001849.3(COL6A2): c.2386_2388del (p.Lys796del) deletion Uncertain significance rs747378168 21:47546115-47546117 21:46126201-46126203
507 COL6A2 NM_001849.3(COL6A2): c.2584C> T (p.Arg862Trp) single nucleotide variant Uncertain significance rs777822883 21:47551990-47551990 21:46132076-46132076
508 COL6A3 NM_004369.3(COL6A3): c.2236C> A (p.Leu746Ile) single nucleotide variant Uncertain significance rs755052076 2:238287540-238287540 2:237378897-237378897
509 COL6A1 NM_001848.2(COL6A1): c.1002+6_1002+88del deletion Uncertain significance rs1556425727 21:47410342-47410424 21:45990428-45990510
510 COL6A1 NM_001848.2(COL6A1): c.1378G> T (p.Val460Phe) single nucleotide variant Uncertain significance rs375452881 21:47414123-47414123 21:45994209-45994209
511 COL6A1 NM_001848.2(COL6A1): c.2434+4C> T single nucleotide variant Uncertain significance rs202147670 21:47422628-47422628 21:46002714-46002714
512 COL6A1 NM_001848.2(COL6A1): c.2663G> A (p.Arg888Gln) single nucleotide variant Uncertain significance rs138351067 21:47423503-47423503 21:46003589-46003589
513 COL6A2 NM_001849.3(COL6A2): c.697C> T (p.Arg233Cys) single nucleotide variant Uncertain significance rs1379543505 21:47532474-47532474 21:46112560-46112560
514 COL6A2 NM_001849.3(COL6A2): c.1095G> T (p.Glu365Asp) single nucleotide variant Uncertain significance rs374673302 21:47537829-47537829 21:46117915-46117915
515 COL6A2 NM_001849.3(COL6A2): c.1792G> A (p.Val598Met) single nucleotide variant Uncertain significance rs149731632 21:47545201-47545201 21:46125287-46125287
516 COL6A1 NM_001848.2(COL6A1): c.2821C> T (p.Leu941Phe) single nucleotide variant Uncertain significance rs147882179 21:47423661-47423661 21:46003747-46003747
517 COL6A3 NM_004369.3(COL6A3): c.410G> A (p.Arg137Gln) single nucleotide variant Uncertain significance rs779126378 2:238303529-238303529 2:237394886-237394886
518 COL6A2 NM_001849.3(COL6A2): c.730G> A (p.Gly244Arg) single nucleotide variant Uncertain significance rs199806576 21:47532733-47532733 21:46112819-46112819
519 COL6A3 NM_004369.3(COL6A3): c.1150G> A (p.Ala384Thr) single nucleotide variant Uncertain significance rs374267444 2:238296387-238296387 2:237387744-237387744
520 COL6A3 NM_004369.3(COL6A3): c.7514G> T (p.Gly2505Val) single nucleotide variant Uncertain significance rs794727591 2:238253147-238253147 2:237344504-237344504
521 COL6A3 NM_004369.3(COL6A3): c.7441A> G (p.Thr2481Ala) single nucleotide variant Uncertain significance rs201467603 2:238253220-238253220 2:237344577-237344577
522 COL6A3 NM_004369.3(COL6A3): c.9487G> A (p.Ala3163Thr) single nucleotide variant Uncertain significance rs553486570 2:238234209-238234209 2:237325566-237325566
523 COL6A3 NM_004369.3(COL6A3): c.3923G> A (p.Arg1308Gln) single nucleotide variant Uncertain significance rs774461787 2:238280737-238280737 2:237372094-237372094
524 COL6A1 NM_001848.2(COL6A1): c.821C> T (p.Pro274Leu) single nucleotide variant Uncertain significance rs201093313 21:47409014-47409014 21:45989100-45989100
525 COL6A3 NM_004369.3(COL6A3): c.2444C> A (p.Pro815His) single nucleotide variant Uncertain significance rs199601240 2:238287332-238287332 2:237378689-237378689
526 COL6A3 NM_004369.3(COL6A3): c.4888C> T (p.Pro1630Ser) single nucleotide variant Uncertain significance rs145560772 2:238277218-238277218 2:237368575-237368575
527 COL6A2 NM_001849.3(COL6A2): c.1358G> A (p.Arg453His) single nucleotide variant Uncertain significance rs878854386 21:47540454-47540454 21:46120540-46120540
528 COL6A2 NM_001849.3(COL6A2): c.2528G> A (p.Arg843Gln) single nucleotide variant Uncertain significance rs201736323 21:47551934-47551934 21:46132020-46132020
529 COL6A2 NM_001849.3(COL6A2): c.1336G> C (p.Asp446His) single nucleotide variant Uncertain significance rs535007570 21:47540432-47540432 21:46120518-46120518
530 COL6A3 NM_004369.3(COL6A3): c.4510C> T (p.Arg1504Trp) single nucleotide variant Uncertain significance rs144223596 2:238277596-238277596 2:237368953-237368953
531 COL6A3 NM_004369.3(COL6A3): c.7660G> A (p.Ala2554Thr) single nucleotide variant Uncertain significance rs786205870 2:238253001-238253001 2:237344358-237344358
532 COL6A3 NM_004369.3(COL6A3): c.4436A> T (p.Gln1479Leu) single nucleotide variant Uncertain significance rs369449472 2:238277670-238277670 2:237369027-237369027
533 COL6A3 NM_004369.3(COL6A3): c.5341A> G (p.Ile1781Val) single nucleotide variant Uncertain significance rs145447965 2:238275489-238275489 2:237366846-237366846
534 COL6A1 NM_001848.2(COL6A1): c.956A> G (p.Lys319Arg) single nucleotide variant Uncertain significance rs794727059 21:47410197-47410197 21:45990283-45990283
535 COL6A3 NM_004369.3(COL6A3): c.6749C> T (p.Pro2250Leu) single nucleotide variant Uncertain significance rs140728855 2:238261169-238261169 2:237352526-237352526
536 COL6A1 NM_001848.2(COL6A1): c.1684A> G (p.Ile562Val) single nucleotide variant Uncertain significance rs374315921 21:47419076-47419076 21:45999162-45999162
537 COL6A3 NM_004369.3(COL6A3): c.5681C> T (p.Pro1894Leu) single nucleotide variant Uncertain significance 2:238274498-238274498 2:237365855-237365855
538 COL6A3 NM_004369.3(COL6A3): c.8009C> T (p.Ala2670Val) single nucleotide variant Uncertain significance rs142851023 2:238249550-238249550 2:237340907-237340907
539 COL6A2 NM_001849.3(COL6A2): c.148G> A (p.Val50Met) single nucleotide variant Uncertain significance rs727502826 21:47531925-47531925 21:46112011-46112011
540 COL6A3 NM_004369.3(COL6A3): c.1826G> A (p.Arg609Gln) single nucleotide variant Uncertain significance 2:238289629-238289629 2:237380986-237380986
541 COL6A2 NM_001849.3(COL6A2): c.2002G> A (p.Glu668Lys) single nucleotide variant Uncertain significance rs138948335 21:47545731-47545731 21:46125817-46125817
542 COL6A2 NM_001849.3(COL6A2): c.2508C> A (p.Phe836Leu) single nucleotide variant Uncertain significance rs727502835 21:47551914-47551914 21:46132000-46132000
543 COL6A3 NM_004369.3(COL6A3): c.2864G> A (p.Arg955His) single nucleotide variant Uncertain significance rs112172548 2:238285621-238285621 2:237376978-237376978
544 COL6A1 NM_001848.2(COL6A1): c.539A> G (p.Lys180Arg) single nucleotide variant Uncertain significance rs756141940 21:47406550-47406550 21:45986636-45986636
545 COL6A3 NM_004369.3(COL6A3): c.5953G> A (p.Val1985Met) single nucleotide variant Uncertain significance rs200478135 2:238272006-238272006 2:237363363-237363363
546 COL6A3 NM_004369.3(COL6A3): c.7173C> T (p.Tyr2391=) single nucleotide variant Uncertain significance rs114248590 2:238253585-238253585 2:237344942-237344942
547 COL6A2 NM_001849.3(COL6A2): c.2810G> A (p.Arg937Gln) single nucleotide variant Uncertain significance rs777354703 21:47552216-47552216 21:46132302-46132302
548 COL6A1 NM_001848.2(COL6A1): c.665G> A (p.Arg222His) single nucleotide variant Uncertain significance rs780638665 21:47406934-47406934 21:45987020-45987020
549 COL6A1 NM_001848.2(COL6A1): c.1555G> A (p.Glu519Lys) single nucleotide variant Uncertain significance rs754384963 21:47418065-47418065 21:45998151-45998151
550 COL6A3 NM_004369.3(COL6A3): c.1120G> A (p.Val374Met) single nucleotide variant Uncertain significance rs780353083 2:238296417-238296417 2:237387774-237387774
551 COL6A3 NM_004369.3(COL6A3): c.290G> A (p.Arg97His) single nucleotide variant Uncertain significance rs201249839 2:238303649-238303649 2:237395006-237395006
552 COL6A1 NM_001848.2(COL6A1): c.1015T> C (p.Tyr339His) single nucleotide variant Uncertain significance rs186775751 21:47410699-47410699 21:45990785-45990785
553 COL6A2 NM_001849.3(COL6A2): c.2960C> T (p.Thr987Met) single nucleotide variant Uncertain significance rs199955442 21:47552366-47552366 21:46132452-46132452
554 COL6A2 NM_001849.3(COL6A2): c.2935G> A (p.Asp979Asn) single nucleotide variant Uncertain significance rs141579198 21:47552341-47552341 21:46132427-46132427
555 COL6A3 NM_004369.3(COL6A3): c.3199G> A (p.Val1067Met) single nucleotide variant Uncertain significance rs148175795 2:238283535-238283535 2:237374892-237374892
556 COL6A1 NM_001848.2(COL6A1): c.2890C> T (p.Arg964Trp) single nucleotide variant Uncertain significance rs375007666 21:47423730-47423730 21:46003816-46003816
557 COL6A3 NM_004369.3(COL6A3): c.8966-3C> A single nucleotide variant Uncertain significance rs190667494 2:238243535-238243535 2:237334892-237334892
558 COL6A1 NM_001848.2(COL6A1): c.356C> T (p.Ala119Val) single nucleotide variant Uncertain significance rs571641824 21:47404311-47404311 21:45984397-45984397
559 COL6A1 NM_001848.2(COL6A1): c.2554G> C (p.Ala852Pro) single nucleotide variant Uncertain significance rs748327110 21:47423394-47423394 21:46003480-46003480
560 COL6A3 NM_004369.3(COL6A3): c.3852C> A (p.Phe1284Leu) single nucleotide variant Uncertain significance rs148561729 2:238280808-238280808 2:237372165-237372165
561 COL6A2 NM_001849.3(COL6A2): c.284G> A (p.Arg95His) single nucleotide variant Uncertain significance rs886042690 21:47532061-47532061 21:46112147-46112147
562 COL6A2 NM_001849.3(COL6A2): c.169G> A (p.Val57Ile) single nucleotide variant Uncertain significance rs768434256 21:47531946-47531946 21:46112032-46112032
563 COL6A3 NM_004369.3(COL6A3): c.9451A> G (p.Lys3151Glu) single nucleotide variant Uncertain significance rs371468515 2:238234245-238234245 2:237325602-237325602
564 COL6A1 NM_001848.2(COL6A1): c.1122C> T (p.Gly374=) single nucleotide variant Uncertain significance rs373535692 21:47411926-47411926 21:45992012-45992012
565 COL6A2 NM_001849.3(COL6A2): c.1130G> A (p.Arg377His) single nucleotide variant Uncertain significance rs148552966 21:47538541-47538541 21:46118627-46118627
566 COL6A2 NM_001849.3(COL6A2): c.638G> A (p.Arg213His) single nucleotide variant Uncertain significance rs368064647 21:47532415-47532415 21:46112501-46112501
567 COL6A1 NM_001848.2(COL6A1): c.1829A> C (p.Lys610Thr) single nucleotide variant Uncertain significance rs768906709 21:47421173-47421173 21:46001259-46001259
568 COL6A1 NM_001848.2(COL6A1): c.1908C> G (p.Asp636Glu) single nucleotide variant Uncertain significance rs886042572 21:47421252-47421252 21:46001338-46001338
569 COL6A2 NM_001849.3(COL6A2): c.2893C> T (p.Arg965Cys) single nucleotide variant Uncertain significance rs201188174 21:47552299-47552299 21:46132385-46132385
570 COL6A3 NM_004369.3(COL6A3): c.9358A> C (p.Thr3120Pro) single nucleotide variant Uncertain significance rs141050617 2:238234338-238234338 2:237325695-237325695
571 COL6A1 NM_001848.2(COL6A1): c.98-6G> A single nucleotide variant Uncertain significance rs886042599 21:47402542-47402542 21:45982628-45982628
572 COL6A2 NM_001849.3(COL6A2): c.1685C> T (p.Pro562Leu) single nucleotide variant Uncertain significance rs370775804 21:47544578-47544578 21:46124664-46124664
573 COL6A3 NM_004369.3(COL6A3): c.9209A> G (p.Tyr3070Cys) single nucleotide variant Uncertain significance rs368568929 2:238243289-238243289 2:237334646-237334646
574 COL6A2 NM_001849.3(COL6A2): c.1498G> C (p.Asp500His) single nucleotide variant Uncertain significance rs770222615 21:47541509-47541509 21:46121595-46121595
575 COL6A3 NM_004369.3(COL6A3): c.3499A> T (p.Ile1167Phe) single nucleotide variant Uncertain significance rs886042996 2:238283235-238283235 2:237374592-237374592
576 COL6A2 NM_001849.3(COL6A2): c.791G> A (p.Arg264His) single nucleotide variant Uncertain significance rs148029276 21:47533977-47533977 21:46114063-46114063
577 COL6A2 NM_001849.3(COL6A2): c.1053+6G> A single nucleotide variant Uncertain significance rs373181368 21:47537373-47537373 21:46117459-46117459
578 COL6A3 NM_004369.3(COL6A3): c.5680C> T (p.Pro1894Ser) single nucleotide variant Uncertain significance rs112540218 2:238274499-238274499 2:237365856-237365856
579 COL6A2 NM_001849.3(COL6A2): c.2798G> A (p.Arg933His) single nucleotide variant Uncertain significance rs374384263 21:47552204-47552204 21:46132290-46132290
580 COL6A1 NM_001848.2(COL6A1): c.2803G> A (p.Ala935Thr) single nucleotide variant Uncertain significance rs766416007 21:47423643-47423643 21:46003729-46003729
581 COL6A3 NM_004369.3(COL6A3): c.7375C> T (p.Arg2459Trp) single nucleotide variant Uncertain significance rs371066956 2:238253286-238253286 2:237344643-237344643
582 COL6A1 NM_001848.2(COL6A1): c.285C> G (p.Asp95Glu) single nucleotide variant Uncertain significance rs145811554 21:47404240-47404240 21:45984326-45984326
583 COL6A1 NM_001848.2(COL6A1): c.763G> A (p.Ala255Thr) single nucleotide variant Uncertain significance rs145473829 21:47407527-47407527 21:45987613-45987613
584 COL6A2 NM_001849.3(COL6A2): c.1060G> A (p.Asp354Asn) single nucleotide variant Uncertain significance rs188184732 21:47537794-47537794 21:46117880-46117880
585 COL6A3 NM_004369.3(COL6A3): c.2219G> A (p.Arg740His) single nucleotide variant Uncertain significance rs529827991 2:238287557-238287557 2:237378914-237378914
586 COL6A1 NM_001848.2(COL6A1): c.623C> T (p.Thr208Met) single nucleotide variant Uncertain significance rs372199631 21:47406892-47406892 21:45986978-45986978
587 COL6A2 NM_001849.3(COL6A2): c.581A> G (p.Gln194Arg) single nucleotide variant Uncertain significance rs113509166 21:47532358-47532358 21:46112444-46112444
588 COL6A2 NM_001849.3(COL6A2): c.2197G> A (p.Gly733Arg) single nucleotide variant Uncertain significance rs886042922 21:47545926-47545926 21:46126012-46126012
589 COL6A1 NM_001848.2(COL6A1): c.325G> A (p.Gly109Ser) single nucleotide variant Uncertain significance rs368580280 21:47404280-47404280 21:45984366-45984366
590 COL6A2 NM_001849.3(COL6A2): c.1012C> T (p.Arg338Cys) single nucleotide variant Uncertain significance rs775751831 21:47537326-47537326 21:46117412-46117412
591 COL6A2 NM_001849.3(COL6A2): c.2785G> A (p.Val929Met) single nucleotide variant Uncertain significance rs145527336 21:47552191-47552191 21:46132277-46132277
592 COL6A2 NM_001849.3(COL6A2): c.2083G> A (p.Glu695Lys) single nucleotide variant Uncertain significance rs377376395 21:47545812-47545812 21:46125898-46125898
593 COL6A2 NM_001849.3(COL6A2): c.2656G> A (p.Gly886Ser) single nucleotide variant Uncertain significance rs571488000 21:47552062-47552062 21:46132148-46132148
594 COL6A1 NM_001848.2(COL6A1): c.2147C> T (p.Pro716Leu) single nucleotide variant Uncertain significance rs755589190 21:47422212-47422212 21:46002298-46002298
595 COL6A3 NM_004369.3(COL6A3): c.8632A> G (p.Thr2878Ala) single nucleotide variant Uncertain significance rs761653490 2:238245111-238245111 2:237336468-237336468
596 COL6A3 NM_004369.3(COL6A3): c.1385A> G (p.Asn462Ser) single nucleotide variant Uncertain significance rs200250810 2:238290070-238290070 2:237381427-237381427
597 COL6A3 NM_004369.3(COL6A3): c.3331G> A (p.Ala1111Thr) single nucleotide variant Uncertain significance rs151021451 2:238283403-238283403 2:237374760-237374760
598 COL6A2 NM_001849.3(COL6A2): c.2922G> A (p.Leu974=) single nucleotide variant Uncertain significance rs556385546 21:47552328-47552328 21:46132414-46132414
599 COL6A3 NM_004369.3(COL6A3): c.107C> T (p.Ala36Val) single nucleotide variant Uncertain significance rs572020866 2:238303832-238303832 2:237395189-237395189
600 COL6A2 NM_001849.3(COL6A2): c.1071G> A (p.Pro357=) single nucleotide variant Uncertain significance rs746727003 21:47537805-47537805 21:46117891-46117891
601 COL6A1 NM_001848.2(COL6A1): c.2611G> A (p.Val871Met) single nucleotide variant Uncertain significance rs374685631 21:47423451-47423451 21:46003537-46003537
602 COL6A3 NM_004369.3(COL6A3): c.4678G> A (p.Ala1560Thr) single nucleotide variant Uncertain significance rs371631320 2:238277428-238277428 2:237368785-237368785
603 COL6A2 NM_001849.3(COL6A2): c.2326G> A (p.Ala776Thr) single nucleotide variant Uncertain significance rs759293889 21:47546055-47546055 21:46126141-46126141
604 COL6A1 NM_001848.2(COL6A1): c.3056A> G (p.Gln1019Arg) single nucleotide variant Uncertain significance rs751518356 21:47423896-47423896 21:46003982-46003982
605 COL6A2 NM_001849.3(COL6A2): c.2659G> A (p.Glu887Lys) single nucleotide variant Uncertain significance rs886043283 21:47552065-47552065 21:46132151-46132151
606 COL6A2 NM_001849.3(COL6A2): c.2950G> A (p.Val984Met) single nucleotide variant Uncertain significance rs752700701 21:47552356-47552356 21:46132442-46132442
607 COL6A2 NM_001849.3(COL6A2): c.1117-3C> T single nucleotide variant Uncertain significance rs772428654 21:47538525-47538525 21:46118611-46118611
608 COL6A3 NM_004369.3(COL6A3): c.5635G> A (p.Gly1879Ser) single nucleotide variant Uncertain significance rs760603443 2:238274544-238274544 2:237365901-237365901
609 COL6A3 NM_004369.3(COL6A3): c.707C> T (p.Thr236Ile) single nucleotide variant Uncertain significance rs886044270 2:238303232-238303232 2:237394589-237394589
610 COL6A2 NM_001849.3(COL6A2): c.1969+4A> C single nucleotide variant Uncertain significance rs775997945 21:47545535-47545535 21:46125621-46125621
611 COL6A3 NM_004369.3(COL6A3): c.3223C> T (p.Arg1075Trp) single nucleotide variant Uncertain significance rs201962257 2:238283511-238283511 2:237374868-237374868
612 COL6A1 NM_001848.2(COL6A1): c.1553C> A (p.Thr518Asn) single nucleotide variant Uncertain significance rs201935658 21:47418063-47418063 21:45998149-45998149
613 COL6A3 NM_004369.3(COL6A3): c.7357G> A (p.Glu2453Lys) single nucleotide variant Uncertain significance rs886044364 2:238253304-238253304 2:237344661-237344661
614 COL6A3 NM_004369.3(COL6A3): c.7513G> A (p.Gly2505Arg) single nucleotide variant Uncertain significance rs545819982 2:238253148-238253148 2:237344505-237344505
615 COL6A3 NM_004369.3(COL6A3): c.6966+4A> C single nucleotide variant Uncertain significance rs373940717 2:238256988-238256988 2:237348345-237348345
616 COL6A3 NM_004369.3(COL6A3): c.6899G> A (p.Gly2300Glu) single nucleotide variant Uncertain significance rs145572916 2:238257287-238257287 2:237348644-237348644
617 COL6A2 NM_001849.3(COL6A2): c.2483C> T (p.Thr828Met) single nucleotide variant Uncertain significance rs755782924 21:47551889-47551889 21:46131975-46131975
618 COL6A2 NM_001849.3(COL6A2): c.545A> G (p.Glu182Gly) single nucleotide variant Uncertain significance rs760509198 21:47532322-47532322 21:46112408-46112408
619 COL6A3 NM_004369.3(COL6A3): c.4324G> A (p.Asp1442Asn) single nucleotide variant Uncertain significance rs772700553 2:238277782-238277782 2:237369139-237369139
620 COL6A1 NM_001848.2(COL6A1): c.1712A> C (p.Lys571Thr) single nucleotide variant Uncertain significance rs751040647 21:47419104-47419104 21:45999190-45999190
621 COL6A2 NM_001849.3(COL6A2): c.2711C> T (p.Ala904Val) single nucleotide variant Uncertain significance rs376665722 21:47552117-47552117 21:46132203-46132203
622 COL6A2 NM_001849.3(COL6A2): c.2738_2740del (p.Ser913del) deletion Uncertain significance rs777696289 21:47552144-47552146 21:46132230-46132232
623 COL6A2 NM_001849.3(COL6A2): c.2629G> A (p.Val877Met) single nucleotide variant Uncertain significance rs369396198 21:47552035-47552035 21:46132121-46132121
624 COL6A3 NM_004369.3(COL6A3): c.5825C> T (p.Pro1942Leu) single nucleotide variant Uncertain significance rs150694150 2:238274354-238274354 2:237365711-237365711
625 COL6A2 NM_001849.3(COL6A2): c.2995G> A (p.Glu999Lys) single nucleotide variant Uncertain significance rs142296092 21:47552401-47552401 21:46132487-46132487
626 COL6A3 NM_004369.3(COL6A3): c.6640G> A (p.Gly2214Ser) single nucleotide variant Uncertain significance rs777454204 2:238262034-238262034 2:237353391-237353391
627 COL6A1 NM_001848.2(COL6A1): c.2873C> A (p.Ala958Asp) single nucleotide variant Uncertain significance rs763228065 21:47423713-47423713 21:46003799-46003799
628 COL6A2 NM_001849.3(COL6A2): c.2243G> A (p.Cys748Tyr) single nucleotide variant Uncertain significance rs200072495 21:47545972-47545972 21:46126058-46126058
629 COL6A2 NM_001849.3(COL6A2): c.229T> C (p.Phe77Leu) single nucleotide variant Uncertain significance rs199736749 21:47532006-47532006 21:46112092-46112092
630 COL6A3 NM_004369.3(COL6A3): c.709+8C> T single nucleotide variant Uncertain significance rs779535244 2:238303222-238303222 2:237394579-237394579
631 COL6A2 NM_001849.3(COL6A2): c.1348G> C (p.Glu450Gln) single nucleotide variant Uncertain significance rs757846451 21:47540444-47540444 21:46120530-46120530
632 COL6A3 NM_004369.3(COL6A3): c.9116C> T (p.Thr3039Met) single nucleotide variant Uncertain significance rs116655315 2:238243382-238243382 2:237334739-237334739
633 COL6A2 NM_001849.3(COL6A2): c.2623G> A (p.Ala875Thr) single nucleotide variant Uncertain significance rs199606147 21:47552029-47552029 21:46132115-46132115
634 COL6A2 NM_001849.3(COL6A2): c.2251G> A (p.Asp751Asn) single nucleotide variant Uncertain significance rs375884809 21:47545980-47545980 21:46126066-46126066
635 COL6A2 NM_001849.3(COL6A2): c.2435T> C (p.Val812Ala) single nucleotide variant Uncertain significance rs886044025 21:47546429-47546429 21:46126515-46126515
636 COL6A2 NM_001849.3(COL6A2): c.1346C> G (p.Pro449Arg) single nucleotide variant Uncertain significance rs886044030 21:47540442-47540442 21:46120528-46120528
637 COL6A3 NM_004369.3(COL6A3): c.6769G> A (p.Ala2257Thr) single nucleotide variant Uncertain significance rs372154635 2:238259820-238259820 2:237351177-237351177
638 COL6A3 NM_004369.3(COL6A3): c.1538G> A (p.Arg513Gln) single nucleotide variant Uncertain significance rs139498556 2:238289917-238289917 2:237381274-237381274
639 COL6A3 NM_004369.3(COL6A3): c.6289C> T (p.Arg2097Trp) single nucleotide variant Uncertain significance rs148252611 2:238268025-238268025 2:237359382-237359382
640 COL6A3 NM_004369.3(COL6A3): c.898_900del (p.Ser300del) deletion Uncertain significance rs554176183 2:238296637-238296639 2:237387994-237387996
641 COL6A3 NM_004369.3(COL6A3): c.6677C> T (p.Thr2226Ile) single nucleotide variant Uncertain significance rs376621780 2:238261997-238261997 2:237353354-237353354
642 COL6A2 NM_001849.3(COL6A2): c.2171G> T (p.Arg724Leu) single nucleotide variant Uncertain significance rs145450812 21:47545900-47545900 21:46125986-46125986
643 COL6A3 NM_004369.3(COL6A3): c.8744C> T (p.Ala2915Val) single nucleotide variant Uncertain significance rs751532649 2:238244999-238244999 2:237336356-237336356
644 COL6A2 NM_001849.3(COL6A2): c.2875G> C (p.Glu959Gln) single nucleotide variant Uncertain significance rs150168522 21:47552281-47552281 21:46132367-46132367
645 COL6A3 NM_004369.3(COL6A3): c.3901C> T (p.Arg1301Trp) single nucleotide variant Uncertain significance rs150430813 2:238280759-238280759 2:237372116-237372116
646 COL6A2 NM_001849.3(COL6A2): c.2749G> A (p.Val917Met) single nucleotide variant Uncertain significance rs145381639 21:47552155-47552155 21:46132241-46132241
647 COL6A3 NM_004369.3(COL6A3): c.3055G> A (p.Gly1019Arg) single nucleotide variant Uncertain significance rs370664069 2:238285430-238285430 2:237376787-237376787
648 COL6A2 NM_001849.3(COL6A2): c.643G> A (p.Asp215Asn) single nucleotide variant Uncertain significance rs563449281 21:47532420-47532420 21:46112506-46112506
649 COL6A3 NM_004369.3(COL6A3): c.8359G> A (p.Ala2787Thr) single nucleotide variant Uncertain significance rs763395740 2:238249200-238249200 2:237340557-237340557
650 COL6A3 NM_004369.3(COL6A3): c.7114G> A (p.Asp2372Asn) single nucleotide variant Uncertain significance rs142002241 2:238253835-238253835 2:237345192-237345192
651 COL6A2 NM_001849.3(COL6A2): c.628G> A (p.Glu210Lys) single nucleotide variant Uncertain significance rs113017484 21:47532405-47532405 21:46112491-46112491
652 COL6A1 NM_001848.2(COL6A1): c.2899A> G (p.Ile967Val) single nucleotide variant Uncertain significance rs777671647 21:47423739-47423739 21:46003825-46003825
653 COL6A3 NM_004369.3(COL6A3): c.9508G> A (p.Gly3170Arg) single nucleotide variant Uncertain significance rs568632361 2:238233443-238233443 2:237324800-237324800
654 COL6A2 NM_001849.3(COL6A2): c.2809C> T (p.Arg937Trp) single nucleotide variant Uncertain significance rs755352246 21:47552215-47552215 21:46132301-46132301
655 COL6A2 NM_001849.3(COL6A2): c.1181G> C (p.Gly394Ala) single nucleotide variant Uncertain significance 21:47538945-47538945 21:46119031-46119031
656 COL6A2 NM_001849.3(COL6A2): c.1225G> A (p.Gly409Arg) single nucleotide variant Uncertain significance 21:47538989-47538989 21:46119075-46119075
657 COL6A2 NM_001849.3(COL6A2): c.2375T> C (p.Leu792Pro) single nucleotide variant Uncertain significance 21:47546104-47546104 21:46126190-46126190
658 COL6A2 NM_001849.3(COL6A2): c.2902_2934dup (p.Asn968_Ser978dup) duplication Uncertain significance 21:47552308-47552340 21:46132394-46132426
659 COL6A2 NM_001849.3(COL6A2): c.3026G> T (p.Gly1009Val) single nucleotide variant Uncertain significance 21:47552432-47552432 21:46132518-46132518
660 COL6A3 NM_004369.3(COL6A3): c.6130G> A (p.Gly2044Arg) single nucleotide variant Uncertain significance 2:238270408-238270408 2:237361765-237361765
661 COL6A3 NM_004369.3(COL6A3): c.5504G> C (p.Cys1835Ser) single nucleotide variant Uncertain significance 2:238274675-238274675 2:237366032-237366032
662 COL6A3 NM_004369.3(COL6A3): c.3271G> A (p.Val1091Ile) single nucleotide variant Uncertain significance 2:238283463-238283463 2:237374820-237374820
663 COL6A3 NM_004369.3(COL6A3): c.2845G> A (p.Ala949Thr) single nucleotide variant Uncertain significance 2:238285640-238285640 2:237376997-237376997
664 COL6A3 NM_004369.3(COL6A3): c.2180A> G (p.Tyr727Cys) single nucleotide variant Uncertain significance 2:238287596-238287596 2:237378953-237378953
665 COL6A3 NM_004369.3(COL6A3): c.581A> G (p.Asn194Ser) single nucleotide variant Uncertain significance 2:238303358-238303358 2:237394715-237394715
666 COL6A2 NC_000021.8: g.(?_47401745)_(47532511_?)dup duplication Uncertain significance 21:47401745-47532511 21:45981831-46112597
667 COL6A1 NM_001848.2(COL6A1): c.903+5G> A single nucleotide variant Uncertain significance 21:47409571-47409571 21:45989657-45989657
668 COL6A1 NM_001848.2(COL6A1): c.1294C> A (p.Pro432Thr) single nucleotide variant Uncertain significance 21:47412683-47412683 21:45992769-45992769
669 COL6A3 NM_004369.3(COL6A3): c.878T> C (p.Met293Thr) single nucleotide variant Uncertain significance 2:238296659-238296659 2:237388016-237388016
670 COL6A3 NM_004369.3(COL6A3): c.6001A> G (p.Met2001Val) single nucleotide variant Uncertain significance 2:238271958-238271958 2:237363315-237363315
671 COL6A3 NM_004369.3(COL6A3): c.9494-2A> G single nucleotide variant Uncertain significance 2:238233459-238233459 2:237324816-237324816
672 COL6A3 NM_004369.3(COL6A3): c.9250C> T (p.Pro3084Ser) single nucleotide variant Uncertain significance 2:238242171-238242171 2:237333528-237333528
673 COL6A3 NM_004369.3(COL6A3): c.8861C> T (p.Pro2954Leu) single nucleotide variant Uncertain significance 2:238244882-238244882 2:237336239-237336239
674 COL6A3 NM_004369.3(COL6A3): c.8750C> A (p.Pro2917His) single nucleotide variant Uncertain significance 2:238244993-238244993 2:237336350-237336350
675 COL6A3 NM_004369.3(COL6A3): c.6452T> C (p.Val2151Ala) single nucleotide variant Uncertain significance 2:238267183-238267183 2:237358540-237358540
676 COL6A3 NM_004369.3(COL6A3): c.6263C> T (p.Pro2088Leu) single nucleotide variant Uncertain significance 2:238268750-238268750 2:237360107-237360107
677 COL6A3 NM_004369.3(COL6A3): c.6094G> T (p.Val2032Phe) single nucleotide variant Uncertain significance 2:238270444-238270444 2:237361801-237361801
678 COL6A3 NM_004369.3(COL6A3): c.5678C> T (p.Thr1893Met) single nucleotide variant Uncertain significance 2:238274501-238274501 2:237365858-237365858
679 COL6A3 NM_004369.3(COL6A3): c.5308G> C (p.Gly1770Arg) single nucleotide variant Uncertain significance 2:238275522-238275522 2:237366879-237366879
680 COL6A3 NM_004369.3(COL6A3): c.5224C> T (p.Arg1742Trp) single nucleotide variant Uncertain significance 2:238275606-238275606 2:237366963-237366963
681 COL6A3 NM_004369.3(COL6A3): c.5180G> A (p.Arg1727Gln) single nucleotide variant Uncertain significance 2:238275650-238275650 2:237367007-237367007
682 COL6A3 NM_004369.3(COL6A3): c.4729A> G (p.Asn1577Asp) single nucleotide variant Uncertain significance 2:238277377-238277377 2:237368734-237368734
683 COL6A3 NM_004369.3(COL6A3): c.2729C> T (p.Thr910Met) single nucleotide variant Uncertain significance 2:238285756-238285756 2:237377113-237377113
684 COL6A3 NM_004369.3(COL6A3): c.2195C> T (p.Thr732Met) single nucleotide variant Uncertain significance 2:238287581-238287581 2:237378938-237378938
685 COL6A3 NM_004369.3(COL6A3): c.2000A> G (p.Asn667Ser) single nucleotide variant Uncertain significance 2:238287776-238287776 2:237379133-237379133
686 COL6A3 NM_004369.3(COL6A3): c.218A> G (p.Glu73Gly) single nucleotide variant Uncertain significance 2:238303721-238303721 2:237395078-237395078
687 COL6A3 NM_004369.3(COL6A3): c.4145C> T (p.Ser1382Leu) single nucleotide variant Uncertain significance 2:238280515-238280515 2:237371872-237371872
688 COL6A3 NM_004369.3(COL6A3): c.9374T> C (p.Ile3125Thr) single nucleotide variant Uncertain significance 2:238234322-238234322 2:237325679-237325679
689 COL6A3 NM_004369.3(COL6A3): c.9061_9063del (p.Asp3021del) deletion Uncertain significance 2:238243435-238243437 2:237334792-237334794
690 COL6A3 NM_004369.3(COL6A3): c.8416G> A (p.Glu2806Lys) single nucleotide variant Uncertain significance 2:238249143-238249143 2:237340500-237340500
691 COL6A3 NM_004369.3(COL6A3): c.7192G> A (p.Val2398Ile) single nucleotide variant Uncertain significance 2:238253469-238253469 2:237344826-237344826
692 COL6A3 NM_004369.3(COL6A3): c.5552T> C (p.Val1851Ala) single nucleotide variant Uncertain significance 2:238274627-238274627 2:237365984-237365984
693 COL6A3 NM_004369.3(COL6A3): c.5348C> T (p.Ser1783Leu) single nucleotide variant Uncertain significance 2:238275482-238275482 2:237366839-237366839
694 COL6A3 NM_004369.3(COL6A3): c.4604G> A (p.Arg1535His) single nucleotide variant Uncertain significance 2:238277502-238277502 2:237368859-237368859
695 COL6A3 NM_004369.3(COL6A3): c.2393T> C (p.Leu798Pro) single nucleotide variant Uncertain significance 2:238287383-238287383 2:237378740-237378740
696 COL6A3 NM_004369.3(COL6A3): c.2148C> T (p.Gly716=) single nucleotide variant Uncertain significance 2:238287628-238287628 2:237378985-237378985
697 COL6A3 NM_004369.3(COL6A3): c.460T> A (p.Ser154Thr) single nucleotide variant Uncertain significance 2:238303479-238303479 2:237394836-237394836
698 COL6A3 NM_004369.3(COL6A3): c.413C> T (p.Ala138Val) single nucleotide variant Uncertain significance 2:238303526-238303526 2:237394883-237394883
699 COL6A3 NM_004369.3(COL6A3): c.8977C> T (p.Arg2993Cys) single nucleotide variant Uncertain significance 2:238243521-238243521 2:237334878-237334878
700 COL6A3 NM_004369.3(COL6A3): c.7670T> A (p.Ile2557Asn) single nucleotide variant Uncertain significance 2:238250803-238250803 2:237342160-237342160
701 COL6A3 NM_004369.3(COL6A3): c.6592G> A (p.Gly2198Ser) single nucleotide variant Uncertain significance 2:238263577-238263577 2:237354934-237354934
702 COL6A3 NM_004369.3(COL6A3): c.6242C> G (p.Thr2081Ser) single nucleotide variant Uncertain significance 2:238268771-238268771 2:237360128-237360128
703 COL6A3 NM_004369.3(COL6A3): c.5977C> T (p.His1993Tyr) single nucleotide variant Uncertain significance 2:238271982-238271982 2:237363339-237363339
704 COL6A3 NM_004369.3(COL6A3): c.4787T> C (p.Val1596Ala) single nucleotide variant Uncertain significance 2:238277319-238277319 2:237368676-237368676
705 COL6A3 NM_004369.3(COL6A3): c.3700G> A (p.Val1234Met) single nucleotide variant Uncertain significance 2:238280960-238280960 2:237372317-237372317
706 COL6A3 NM_004369.3(COL6A3): c.3556G> A (p.Val1186Met) single nucleotide variant Uncertain significance 2:238283178-238283178 2:237374535-237374535
707 COL6A3 NM_004369.3(COL6A3): c.2666G> A (p.Arg889His) single nucleotide variant Uncertain significance 2:238285819-238285819 2:237377176-237377176
708 COL6A3 NM_004369.3(COL6A3): c.2307G> A (p.Ala769=) single nucleotide variant Uncertain significance 2:238287469-238287469 2:237378826-237378826
709 COL6A3 NM_004369.3(COL6A3): c.1575G> A (p.Thr525=) single nucleotide variant Uncertain significance 2:238289880-238289880 2:237381237-237381237
710 COL6A3 NM_004369.3(COL6A3): c.1131C> G (p.Phe377Leu) single nucleotide variant Uncertain significance 2:238296406-238296406 2:237387763-237387763
711 COL6A3 NM_004369.3(COL6A3): c.1069C> A (p.Pro357Thr) single nucleotide variant Uncertain significance 2:238296468-238296468 2:237387825-237387825
712 COL6A3 NM_004369.3(COL6A3): c.461C> T (p.Ser154Leu) single nucleotide variant Uncertain significance rs147701785 2:238303478-238303478 2:237394835-237394835
713 COL6A1 NM_001848.2(COL6A1): c.750C> A (p.Phe250Leu) single nucleotide variant Uncertain significance rs748153811 21:47407424-47407424 21:45987510-45987510
714 COL6A3 NM_004369.3(COL6A3): c.9229+4A> C single nucleotide variant Uncertain significance 2:238243265-238243265 2:237334622-237334622
715 COL6A3 NM_004369.3(COL6A3): c.9059A> G (p.Tyr3020Cys) single nucleotide variant Uncertain significance 2:238243439-238243439 2:237334796-237334796
716 COL6A3 NM_004369.3(COL6A3): c.6902T> C (p.Val2301Ala) single nucleotide variant Uncertain significance 2:238257284-238257284 2:237348641-237348641
717 COL6A3 NM_004369.3(COL6A3): c.4922T> A (p.Val1641Glu) single nucleotide variant Uncertain significance 2:238275908-238275908 2:237367265-237367265
718 COL6A1 NM_001848.2(COL6A1): c.5G> A (p.Arg2Lys) single nucleotide variant Uncertain significance 21:47401769-47401769 21:45981855-45981855
719 COL6A1 NM_001848.2(COL6A1): c.680C> T (p.Ala227Val) single nucleotide variant Uncertain significance 21:47406949-47406949 21:45987035-45987035
720 COL6A3 NM_004369.3(COL6A3): c.8308G> A (p.Val2770Met) single nucleotide variant Uncertain significance rs886044644 2:238249251-238249251 2:237340608-237340608
721 COL6A1 NM_001848.2(COL6A1): c.1231G> A (p.Asp411Asn) single nucleotide variant Uncertain significance 21:47412126-47412126 21:45992212-45992212
722 COL6A1 NM_001848.2(COL6A1): c.2768T> G (p.Val923Gly) single nucleotide variant Uncertain significance 21:47423608-47423608 21:46003694-46003694
723 COL6A1 NM_001848.2(COL6A1): c.2941C> A (p.Pro981Thr) single nucleotide variant Uncertain significance 21:47423781-47423781 21:46003867-46003867
724 COL6A1 NM_001848.2(COL6A1): c.2950C> T (p.Arg984Cys) single nucleotide variant Uncertain significance 21:47423790-47423790 21:46003876-46003876
725 COL6A2 NM_001849.3(COL6A2): c.422T> C (p.Met141Thr) single nucleotide variant Uncertain significance 21:47532199-47532199 21:46112285-46112285
726 COL6A2 NM_001849.3(COL6A2): c.1937G> A (p.Gly646Asp) single nucleotide variant Uncertain significance 21:47545499-47545499 21:46125585-46125585
727 COL6A2 NM_001849.3(COL6A2): c.2278G> A (p.Gly760Arg) single nucleotide variant Uncertain significance 21:47546007-47546007 21:46126093-46126093
728 COL6A2 NM_001849.3(COL6A2): c.2628C> T (p.Arg876=) single nucleotide variant Uncertain significance 21:47552034-47552034 21:46132120-46132120
729 COL6A1 NM_001848.2(COL6A1): c.2603C> T (p.Ala868Val) single nucleotide variant Uncertain significance 21:47423443-47423443 21:46003529-46003529
730 COL6A1 NM_001848.2(COL6A1): c.2857G> T (p.Ala953Ser) single nucleotide variant Uncertain significance 21:47423697-47423697 21:46003783-46003783
731 COL6A2 NM_001849.3(COL6A2): c.557G> A (p.Arg186Gln) single nucleotide variant Uncertain significance 21:47532334-47532334 21:46112420-46112420
732 COL6A2 NM_001849.3(COL6A2): c.623C> T (p.Pro208Leu) single nucleotide variant Uncertain significance 21:47532400-47532400 21:46112486-46112486
733 COL6A1 NM_001848.2(COL6A1): c.596G> A (p.Arg199His) single nucleotide variant Uncertain significance 21:47406865-47406865 21:45986951-45986951
734 COL6A1 NM_001848.2(COL6A1): c.1030G> C (p.Gly344Arg) single nucleotide variant Uncertain significance 21:47410714-47410714 21:45990800-45990800
735 COL6A2 NM_001849.3(COL6A2): c.1357C> T (p.Arg453Cys) single nucleotide variant Uncertain significance 21:47540453-47540453 21:46120539-46120539
736 COL6A2 NM_001849.3(COL6A2): c.2181G> A (p.Ala727=) single nucleotide variant Uncertain significance 21:47545910-47545910 21:46125996-46125996
737 COL6A1 NM_001848.2(COL6A1): c.85G> A (p.Val29Met) single nucleotide variant Uncertain significance 21:47401849-47401849 21:45981935-45981935
738 COL6A1 NM_001848.2(COL6A1): c.331G> A (p.Asp111Asn) single nucleotide variant Uncertain significance 21:47404286-47404286 21:45984372-45984372
739 COL6A1 NM_001848.2(COL6A1): c.344G> A (p.Ser115Asn) single nucleotide variant Uncertain significance 21:47404299-47404299 21:45984385-45984385
740 COL6A1 NM_001848.2(COL6A1): c.377G> T (p.Gly126Val) single nucleotide variant Uncertain significance 21:47404332-47404332 21:45984418-45984418
741 COL6A1 NM_001848.2(COL6A1): c.1182+5G> C single nucleotide variant Uncertain significance 21:47411991-47411991 21:45992077-45992077
742 COL6A1 NM_001848.2(COL6A1): c.3041G> A (p.Arg1014His) single nucleotide variant Uncertain significance 21:47423881-47423881 21:46003967-46003967
743 COL6A2 NM_001849.3(COL6A2): c.881T> C (p.Ile294Thr) single nucleotide variant Uncertain significance 21:47535948-47535948 21:46116034-46116034
744 COL6A2 NM_001849.3(COL6A2): c.1111G> A (p.Gly371Ser) single nucleotide variant Uncertain significance 21:47537845-47537845 21:46117931-46117931
745 COL6A3 NM_004369.3(COL6A3): c.8257G> A (p.Glu2753Lys) single nucleotide variant Uncertain significance 2:238249302-238249302 2:237340659-237340659
746 COL6A3 NM_004369.3(COL6A3): c.9380A> G (p.Lys3127Arg) single nucleotide variant Uncertain significance 2:238234316-238234316 2:237325673-237325673
747 COL6A3 NM_004369.3(COL6A3): c.8804C> A (p.Ala2935Glu) single nucleotide variant Uncertain significance 2:238244939-238244939 2:237336296-237336296
748 COL6A3 NM_004369.3(COL6A3): c.8759C> A (p.Ala2920Asp) single nucleotide variant Uncertain significance 2:238244984-238244984 2:237336341-237336341
749 COL6A3 NM_004369.3(COL6A3): c.8754G> A (p.Val2918=) single nucleotide variant Uncertain significance 2:238244989-238244989 2:237336346-237336346
750 COL6A3 NM_004369.3(COL6A3): c.8645C> T (p.Pro2882Leu) single nucleotide variant Uncertain significance 2:238245098-238245098 2:237336455-237336455
751 COL6A3 NM_004369.3(COL6A3): c.8627C> T (p.Pro2876Leu) single nucleotide variant Uncertain significance 2:238245116-238245116 2:237336473-237336473
752 COL6A3 NM_004369.3(COL6A3): c.8522G> A (p.Gly2841Glu) single nucleotide variant Uncertain significance 2:238247703-238247703 2:237339060-237339060
753 COL6A3 NM_004369.3(COL6A3): c.7356C> G (p.Asn2452Lys) single nucleotide variant Uncertain significance 2:238253305-238253305 2:237344662-237344662
754 COL6A3 NM_004369.3(COL6A3): c.7328C> T (p.Ala2443Val) single nucleotide variant Uncertain significance 2:238253333-238253333 2:237344690-237344690
755 COL6A3 NM_004369.3(COL6A3): c.7290T> G (p.Asn2430Lys) single nucleotide variant Uncertain significance 2:238253371-238253371 2:237344728-237344728
756 COL6A3 NM_004369.3(COL6A3): c.6832C> A (p.Pro2278Thr) single nucleotide variant Uncertain significance 2:238258837-238258837 2:237350194-237350194
757 COL6A3 NM_004369.3(COL6A3): c.6730G> C (p.Glu2244Gln) single nucleotide variant Uncertain significance 2:238261188-238261188 2:237352545-237352545
758 COL6A3 NM_004369.3(COL6A3): c.6715C> G (p.Pro2239Ala) single nucleotide variant Uncertain significance 2:238261203-238261203 2:237352560-237352560
759 COL6A3 NM_004369.3(COL6A3): c.6443G> A (p.Arg2148Lys) single nucleotide variant Uncertain significance 2:238267192-238267192 2:237358549-237358549
760 COL6A3 NM_004369.3(COL6A3): c.6356G> A (p.Gly2119Glu) single nucleotide variant Uncertain significance 2:238267730-238267730 2:237359087-237359087
761 COL6A1 NM_001848.2(COL6A1): c.1459G> A (p.Glu487Lys) single nucleotide variant Uncertain significance 21:47417395-47417395 21:45997481-45997481
762 COL6A1 NM_001848.2(COL6A1): c.1825T> C (p.Cys609Arg) single nucleotide variant Uncertain significance 21:47421169-47421169 21:46001255-46001255
763 COL6A2 NM_001849.3(COL6A2): c.267G> C (p.Gln89His) single nucleotide variant Uncertain significance 21:47532044-47532044 21:46112130-46112130
764 COL6A2 NM_001849.3(COL6A2): c.544G> A (p.Glu182Lys) single nucleotide variant Uncertain significance 21:47532321-47532321 21:46112407-46112407
765 COL6A2 NM_001849.3(COL6A2): c.2153G> A (p.Ser718Asn) single nucleotide variant Uncertain significance 21:47545882-47545882 21:46125968-46125968
766 COL6A2 NM_001849.3(COL6A2): c.2804G> A (p.Gly935Glu) single nucleotide variant Uncertain significance 21:47552210-47552210 21:46132296-46132296
767 COL6A2 NM_001849.3(COL6A2): c.2877G> T (p.Glu959Asp) single nucleotide variant Uncertain significance 21:47552283-47552283 21:46132369-46132369
768 COL6A1 NM_001848.2(COL6A1): c.2050G> A (p.Val684Met) single nucleotide variant Uncertain significance 21:47421968-47421968 21:46002054-46002054
769 COL6A3 NM_004369.3(COL6A3): c.5387C> T (p.Ala1796Val) single nucleotide variant Uncertain significance 2:238275443-238275443 2:237366800-237366800
770 COL6A1 NM_001848.2(COL6A1): c.2783G> T (p.Arg928Leu) single nucleotide variant Uncertain significance 21:47423623-47423623 21:46003709-46003709
771 COL6A3 NM_004369.3(COL6A3): c.1958C> A (p.Thr653Asn) single nucleotide variant Uncertain significance 2:238287818-238287818 2:237379175-237379175
772 COL6A1 NM_001848.2(COL6A1): c.2713G> A (p.Asp905Asn) single nucleotide variant Uncertain significance 21:47423553-47423553 21:46003639-46003639
773 COL6A3 NM_004369.3(COL6A3): c.4765G> A (p.Asp1589Asn) single nucleotide variant Uncertain significance 2:238277341-238277341 2:237368698-237368698
774 COL6A3 NM_004369.3(COL6A3): c.8045C> T (p.Pro2682Leu) single nucleotide variant Uncertain significance 2:238249514-238249514 2:237340871-237340871
775 COL6A1 NM_001848.2(COL6A1): c.1160G> A (p.Ser387Asn) single nucleotide variant Uncertain significance 21:47411964-47411964 21:45992050-45992050
776 COL6A1 NM_001848.2(COL6A1): c.1315C> T (p.Arg439Trp) single nucleotide variant Uncertain significance 21:47412704-47412704 21:45992790-45992790
777 COL6A1 NM_001848.2(COL6A1): c.1447C> T (p.Pro483Ser) single nucleotide variant Uncertain significance 21:47417383-47417383 21:45997469-45997469
778 COL6A1 NM_001848.2(COL6A1): c.1619A> G (p.Lys540Arg) single nucleotide variant Uncertain significance 21:47418818-47418818 21:45998904-45998904
779 COL6A1 NM_001848.2(COL6A1): c.1732G> A (p.Gly578Ser) single nucleotide variant Uncertain significance 21:47419124-47419124 21:45999210-45999210
780 COL6A1 NM_001848.2(COL6A1): c.1742G> C (p.Gly581Ala) single nucleotide variant Uncertain significance 21:47419572-47419572 21:45999658-45999658
781 COL6A1 NM_001848.2(COL6A1): c.1959C> G (p.Phe653Leu) single nucleotide variant Uncertain significance 21:47421877-47421877 21:46001963-46001963
782 COL6A1 NM_001848.2(COL6A1): c.1979C> T (p.Ala660Val) single nucleotide variant Uncertain significance 21:47421897-47421897 21:46001983-46001983
783 COL6A1 NM_001848.2(COL6A1): c.1982G> A (p.Gly661Asp) single nucleotide variant Uncertain significance 21:47421900-47421900 21:46001986-46001986
784 COL6A1 NM_001848.2(COL6A1): c.2021T> G (p.Val674Gly) single nucleotide variant Uncertain significance 21:47421939-47421939 21:46002025-46002025
785 COL6A1 NM_001848.2(COL6A1): c.2481G> A (p.Pro827=) single nucleotide variant Uncertain significance 21:47423321-47423321 21:46003407-46003407
786 COL6A1 NM_001848.2(COL6A1): c.2518G> A (p.Val840Met) single nucleotide variant Uncertain significance 21:47423358-47423358 21:46003444-46003444
787 COL6A1 NM_001848.2(COL6A1): c.2743G> A (p.Asp915Asn) single nucleotide variant Uncertain significance 21:47423583-47423583 21:46003669-46003669
788 COL6A1 NM_001848.2(COL6A1): c.2963C> G (p.Thr988Ser) single nucleotide variant Uncertain significance 21:47423803-47423803 21:46003889-46003889
789 COL6A1 NM_001848.2(COL6A1): c.2996G> A (p.Gly999Asp) single nucleotide variant Uncertain significance 21:47423836-47423836 21:46003922-46003922
790 COL6A1 NM_001848.2(COL6A1): c.3040C> T (p.Arg1014Cys) single nucleotide variant Uncertain significance 21:47423880-47423880 21:46003966-46003966
791 COL6A2 NM_001849.3(COL6A2): c.80C> T (p.Ser27Leu) single nucleotide variant Uncertain significance 21:47531470-47531470 21:46111556-46111556
792 COL6A2 NM_001849.3(COL6A2): c.83C> G (p.Pro28Arg) single nucleotide variant Uncertain significance 21:47531473-47531473 21:46111559-46111559
793 COL6A2 NM_001849.3(COL6A2): c.460G> A (p.Val154Ile) single nucleotide variant Uncertain significance 21:47532237-47532237 21:46112323-46112323
794 COL6A2 NM_001849.3(COL6A2): c.484G> A (p.Asp162Asn) single nucleotide variant Uncertain significance 21:47532261-47532261 21:46112347-46112347
795 COL6A2 NM_001849.3(COL6A2): c.556C> T (p.Arg186Trp) single nucleotide variant Uncertain significance 21:47532333-47532333 21:46112419-46112419
796 COL6A2 NM_001849.3(COL6A2): c.582G> C (p.Gln194His) single nucleotide variant Uncertain significance 21:47532359-47532359 21:46112445-46112445
797 COL6A2 NM_001849.3(COL6A2): c.673G> A (p.Glu225Lys) single nucleotide variant Uncertain significance 21:47532450-47532450 21:46112536-46112536
798 COL6A2 NM_001849.3(COL6A2): c.904G> A (p.Val302Ile) single nucleotide variant Uncertain significance 21:47536294-47536294 21:46116380-46116380
799 COL6A2 NM_001849.3(COL6A2): c.946G> A (p.Gly316Ser) single nucleotide variant Uncertain significance 21:47536583-47536583 21:46116669-46116669
800 COL6A2 NM_001849.3(COL6A2): c.961C> T (p.Pro321Ser) single nucleotide variant Uncertain significance 21:47536690-47536690 21:46116776-46116776
801 COL6A2 NM_001849.3(COL6A2): c.1112G> T (p.Gly371Val) single nucleotide variant Uncertain significance 21:47537846-47537846 21:46117932-46117932
802 COL6A2 NM_001849.3(COL6A2): c.1118G> C (p.Gly373Ala) single nucleotide variant Uncertain significance 21:47538529-47538529 21:46118615-46118615
803 COL6A2 NM_001849.3(COL6A2): c.1263C> T (p.Gly421=) single nucleotide variant Uncertain significance 21:47539027-47539027 21:46119113-46119113
804 COL6A2 NM_001849.3(COL6A2): c.1277G> C (p.Arg426Thr) single nucleotide variant Uncertain significance 21:47539709-47539709 21:46119795-46119795
805 COL6A2 NM_001849.3(COL6A2): c.1447C> T (p.Pro483Ser) single nucleotide variant Uncertain significance 21:47541026-47541026 21:46121112-46121112
806 COL6A2 NM_001849.3(COL6A2): c.1477G> A (p.Gly493Ser) single nucleotide variant Uncertain significance 21:47541488-47541488 21:46121574-46121574
807 COL6A2 NM_001849.3(COL6A2): c.1568C> G (p.Ala523Gly) single nucleotide variant Uncertain significance 21:47542068-47542068 21:46122154-46122154
808 COL6A2 NM_001849.3(COL6A2): c.1600G> A (p.Gly534Ser) single nucleotide variant Uncertain significance 21:47542437-47542437 21:46122523-46122523
809 COL6A2 NM_001849.3(COL6A2): c.1616G> A (p.Arg539Gln) single nucleotide variant Uncertain significance 21:47542796-47542796 21:46122882-46122882
810 COL6A2 NM_001849.3(COL6A2): c.1621G> A (p.Asp541Asn) single nucleotide variant Uncertain significance 21:47542801-47542801 21:46122887-46122887
811 COL6A2 NM_001849.3(COL6A2): c.1912_1914del (p.Val638del) deletion Uncertain significance 21:47545472-47545474 21:46125560-46125562
812 COL6A2 NM_001849.3(COL6A2): c.2318A> C (p.Tyr773Ser) single nucleotide variant Uncertain significance 21:47546047-47546047 21:46126133-46126133
813 COL6A2 NM_001849.3(COL6A2): c.2420C> T (p.Pro807Leu) single nucleotide variant Uncertain significance 21:47546149-47546149 21:46126235-46126235
814 COL6A2 NM_001849.3(COL6A2): c.2425C> T (p.Pro809Ser) single nucleotide variant Uncertain significance 21:47546419-47546419 21:46126505-46126505
815 COL6A2 NM_001849.3(COL6A2): c.2557C> T (p.Arg853Trp) single nucleotide variant Uncertain significance 21:47551963-47551963 21:46132049-46132049
816 COL6A2 NM_001849.3(COL6A2): c.2561G> A (p.Arg854His) single nucleotide variant Uncertain significance 21:47551967-47551967 21:46132053-46132053
817 COL6A2 NM_001849.3(COL6A2): c.2671G> A (p.Ala891Thr) single nucleotide variant Uncertain significance 21:47552077-47552077 21:46132163-46132163
818 COL6A2 NM_001849.3(COL6A2): c.2698G> A (p.Ala900Thr) single nucleotide variant Uncertain significance 21:47552104-47552104 21:46132190-46132190
819 COL6A2 NM_001849.3(COL6A2): c.2769C> A (p.His923Gln) single nucleotide variant Uncertain significance 21:47552175-47552175 21:46132261-46132261
820 COL6A2 NM_001849.3(COL6A2): c.2846_2857dup (p.Asp949_Thr952dup) duplication Uncertain significance 21:47552245-47552246 21:46132338-46132349
821 COL6A2 NM_001849.3(COL6A2): c.2855C> G (p.Thr952Arg) single nucleotide variant Uncertain significance 21:47552261-47552261 21:46132347-46132347
822 COL6A2 NM_001849.3(COL6A2): c.2863G> A (p.Asp955Asn) single nucleotide variant Uncertain significance 21:47552269-47552269 21:46132355-46132355
823 COL6A2 NM_001849.3(COL6A2): c.2887T> G (p.Ser963Ala) single nucleotide variant Uncertain significance 21:47552293-47552293 21:46132379-46132379
824 COL6A2 NM_001849.3(COL6A2): c.2892G> A (p.Met964Ile) single nucleotide variant Uncertain significance 21:47552298-47552298 21:46132384-46132384
825 COL6A2 NM_001849.3(COL6A2): c.2938G> A (p.Val980Met) single nucleotide variant Uncertain significance 21:47552344-47552344 21:46132430-46132430
826 COL6A2 NM_001849.3(COL6A2): c.2977C> T (p.Arg993Cys) single nucleotide variant Uncertain significance 21:47552383-47552383 21:46132469-46132469
827 COL6A2 NM_001849.3(COL6A2): c.3007G> A (p.Asp1003Asn) single nucleotide variant Uncertain significance 21:47552413-47552413 21:46132499-46132499
828 COL6A3 NM_004369.3(COL6A3): c.3071-7C> G single nucleotide variant Uncertain significance 2:238283670-238283670 2:237375027-237375027
829 COL6A3 NM_004369.3(COL6A3): c.7669-3C> T single nucleotide variant Uncertain significance 2:238250807-238250807 2:237342164-237342164
830 COL6A3 NM_004369.3(COL6A3): c.6591+5G> A single nucleotide variant Uncertain significance 2:238265976-238265976 2:237357333-237357333
831 COL6A3 NM_004369.3(COL6A3): c.3679+5G> T single nucleotide variant Uncertain significance 2:238283050-238283050 2:237374407-237374407
832 COL6A3 NM_004369.3(COL6A3): c.6308A> G (p.Lys2103Arg) single nucleotide variant Uncertain significance 2:238268006-238268006 2:237359363-237359363
833 COL6A3 NM_004369.3(COL6A3): c.6239G> T (p.Gly2080Val) single nucleotide variant Uncertain significance 2:238268774-238268774 2:237360131-237360131
834 COL6A3 NM_004369.3(COL6A3): c.6224C> T (p.Pro2075Leu) single nucleotide variant Uncertain significance 2:238268789-238268789 2:237360146-237360146
835 COL6A3 NM_004369.3(COL6A3): c.6201G> C (p.Glu2067Asp) single nucleotide variant Uncertain significance 2:238269773-238269773 2:237361130-237361130
836 COL6A3 NM_004369.3(COL6A3): c.6086G> A (p.Cys2029Tyr) single nucleotide variant Uncertain significance 2:238270452-238270452 2:237361809-237361809
837 COL6A3 NM_004369.3(COL6A3): c.6068A> G (p.Asn2023Ser) single nucleotide variant Uncertain significance 2:238270470-238270470 2:237361827-237361827
838 COL6A3 NM_004369.3(COL6A3): c.6054G> A (p.Ala2018=) single nucleotide variant Uncertain significance 2:238271905-238271905 2:237363262-237363262
839 COL6A3 NM_004369.3(COL6A3): c.5804A> G (p.Asn1935Ser) single nucleotide variant Uncertain significance 2:238274375-238274375 2:237365732-237365732
840 COL6A3 NM_004369.3(COL6A3): c.5768A> G (p.Tyr1923Cys) single nucleotide variant Uncertain significance 2:238274411-238274411 2:237365768-237365768
841 COL6A3 NM_004369.3(COL6A3): c.5419G> A (p.Glu1807Lys) single nucleotide variant Uncertain significance 2:238275411-238275411 2:237366768-237366768
842 COL6A3 NM_004369.3(COL6A3): c.5369C> T (p.Ala1790Val) single nucleotide variant Uncertain significance 2:238275461-238275461 2:237366818-237366818
843 COL6A3 NM_004369.3(COL6A3): c.5244T> A (p.Phe1748Leu) single nucleotide variant Uncertain significance 2:238275586-238275586 2:237366943-237366943
844 COL6A3 NM_004369.3(COL6A3): c.5222A> T (p.Gln1741Leu) single nucleotide variant Uncertain significance 2:238275608-238275608 2:237366965-237366965
845 COL6A3 NM_004369.3(COL6A3): c.4950C> G (p.Phe1650Leu) single nucleotide variant Uncertain significance 2:238275880-238275880 2:237367237-237367237
846 COL6A3 NM_004369.3(COL6A3): c.4817A> T (p.Glu1606Val) single nucleotide variant Uncertain significance 2:238277289-238277289 2:237368646-237368646
847 COL6A3 NM_004369.3(COL6A3): c.4503C> A (p.Asp1501Glu) single nucleotide variant Uncertain significance 2:238277603-238277603 2:237368960-237368960
848 COL6A3 NM_004369.3(COL6A3): c.4318C> G (p.Leu1440Val) single nucleotide variant Uncertain significance 2:238277788-238277788 2:237369145-237369145
849 COL6A3 NM_004369.3(COL6A3): c.4085T> A (p.Phe1362Tyr) single nucleotide variant Uncertain significance 2:238280575-238280575 2:237371932-237371932
850 COL6A3 NM_004369.3(COL6A3): c.4048G> A (p.Asp1350Asn) single nucleotide variant Uncertain significance 2:238280612-238280612 2:237371969-237371969
851 COL6A3 NM_004369.3(COL6A3): c.4041G> T (p.Lys1347Asn) single nucleotide variant Uncertain significance 2:238280619-238280619 2:237371976-237371976
852 COL6A3 NM_004369.3(COL6A3): c.4007T> C (p.Val1336Ala) single nucleotide variant Uncertain significance 2:238280653-238280653 2:237372010-237372010
853 COL6A3 NM_004369.3(COL6A3): c.3991C> A (p.Arg1331Ser) single nucleotide variant Uncertain significance 2:238280669-238280669 2:237372026-237372026
854 COL6A3 NM_004369.3(COL6A3): c.3989G> T (p.Ser1330Ile) single nucleotide variant Uncertain significance 2:238280671-238280671 2:237372028-237372028
855 COL6A3 NM_004369.3(COL6A3): c.3922C> T (p.Arg1308Trp) single nucleotide variant Uncertain significance 2:238280738-238280738 2:237372095-237372095
856 COL6A3 NM_004369.3(COL6A3): c.3893C> T (p.Ala1298Val) single nucleotide variant Uncertain significance 2:238280767-238280767 2:237372124-237372124
857 COL6A3 NM_004369.3(COL6A3): c.3790G> A (p.Val1264Met) single nucleotide variant Uncertain significance 2:238280870-238280870 2:237372227-237372227
858 COL6A3 NM_004369.3(COL6A3): c.3651G> T (p.Gln1217His) single nucleotide variant Uncertain significance 2:238283083-238283083 2:237374440-237374440
859 COL6A3 NM_004369.3(COL6A3): c.3463G> A (p.Val1155Met) single nucleotide variant Uncertain significance 2:238283271-238283271 2:237374628-237374628
860 COL6A3 NM_004369.3(COL6A3): c.3357C> G (p.Ile1119Met) single nucleotide variant Uncertain significance 2:238283377-238283377 2:237374734-237374734
861 COL6A3 NM_004369.3(COL6A3): c.3319A> G (p.Asn1107Asp) single nucleotide variant Uncertain significance 2:238283415-238283415 2:237374772-237374772
862 COL6A3 NM_004369.3(COL6A3): c.3311C> T (p.Pro1104Leu) single nucleotide variant Uncertain significance 2:238283423-238283423 2:237374780-237374780
863 COL6A3 NM_004369.3(COL6A3): c.3164T> A (p.Val1055Glu) single nucleotide variant Uncertain significance 2:238283570-238283570 2:237374927-237374927
864 COL6A3 NM_004369.3(COL6A3): c.2959G> A (p.Val987Met) single nucleotide variant Uncertain significance 2:238285526-238285526 2:237376883-237376883
865 COL6A3 NM_004369.3(COL6A3): c.2908C> G (p.Pro970Ala) single nucleotide variant Uncertain significance 2:238285577-238285577 2:237376934-237376934
866 COL6A3 NM_004369.3(COL6A3): c.2822T> C (p.Leu941Pro) single nucleotide variant Uncertain significance 2:238285663-238285663 2:237377020-237377020
867 COL6A3 NM_004369.3(COL6A3): c.2722A> T (p.Ile908Phe) single nucleotide variant Uncertain significance 2:238285763-238285763 2:237377120-237377120
868 COL6A3 NM_004369.3(COL6A3): c.2707G> A (p.Val903Met) single nucleotide variant Uncertain significance 2:238285778-238285778 2:237377135-237377135
869 COL6A3 NM_004369.3(COL6A3): c.2546T> A (p.Val849Glu) single nucleotide variant Uncertain significance 2:238285939-238285939 2:237377296-237377296
870 COL6A2 NM_001849.3(COL6A2): c.2293G> A (p.Glu765Lys) single nucleotide variant Uncertain significance 21:47546022-47546022 21:46126108-46126108
871 COL6A1 NM_001848.2(COL6A1): c.2920G> A (p.Val974Met) single nucleotide variant Uncertain significance 21:47423760-47423760 21:46003846-46003846
872 COL6A3 NM_004369.3(COL6A3): c.5095A> C (p.Lys1699Gln) single nucleotide variant Uncertain significance 2:238275735-238275735 2:237367092-237367092
873 COL6A1 NM_001848.2(COL6A1): c.185T> G (p.Val62Gly) single nucleotide variant Uncertain significance 21:47402635-47402635 21:45982721-45982721
874 COL6A1 NM_001848.2(COL6A1): c.269C> T (p.Ala90Val) single nucleotide variant Uncertain significance 21:47404224-47404224 21:45984310-45984310
875 COL6A1 NM_001848.2(COL6A1): c.334G> A (p.Ala112Thr) single nucleotide variant Uncertain significance 21:47404289-47404289 21:45984375-45984375
876 COL6A1 NM_001848.2(COL6A1): c.375G> C (p.Lys125Asn) single nucleotide variant Uncertain significance 21:47404330-47404330 21:45984416-45984416
877 COL6A1 NM_001848.2(COL6A1): c.509G> C (p.Gly170Ala) single nucleotide variant Uncertain significance 21:47406520-47406520 21:45986606-45986606
878 COL6A1 NM_001848.2(COL6A1): c.697G> A (p.Asp233Asn) single nucleotide variant Uncertain significance 21:47406966-47406966 21:45987052-45987052
879 COL6A2 NM_001849.3(COL6A2): c.116-3C> T single nucleotide variant Uncertain significance 21:47531890-47531890 21:46111976-46111976
880 COL6A1 NC_000021.8: g.(?_47401755)_(47546465_?)dup duplication Uncertain significance 21:47401755-47546465 21:45981841-46126551
881 COL6A1 NM_001848.2(COL6A1): c.2464+1G> A single nucleotide variant Uncertain significance 21:47423064-47423064 21:46003150-46003150
882 COL6A2 NM_001849.3(COL6A2): c.-91_3071dup duplication Uncertain significance
883 COL6A3 NM_004369.3(COL6A3): c.2416C> T (p.Pro806Ser) single nucleotide variant Uncertain significance 2:238287360-238287360 2:237378717-237378717
884 COL6A3 NM_004369.3(COL6A3): c.2374A> G (p.Asn792Asp) single nucleotide variant Uncertain significance 2:238287402-238287402 2:237378759-237378759
885 COL6A3 NM_004369.3(COL6A3): c.2342C> T (p.Ala781Val) single nucleotide variant Uncertain significance 2:238287434-238287434 2:237378791-237378791
886 COL6A3 NM_004369.3(COL6A3): c.2144C> T (p.Ser715Leu) single nucleotide variant Uncertain significance 2:238287632-238287632 2:237378989-237378989
887 COL6A3 NM_004369.3(COL6A3): c.2066C> T (p.Thr689Met) single nucleotide variant Uncertain significance 2:238287710-238287710 2:237379067-237379067
888 COL6A3 NM_004369.3(COL6A3): c.1906A> G (p.Asn636Asp) single nucleotide variant Uncertain significance 2:238287870-238287870 2:237379227-237379227
889 COL6A3 NM_004369.3(COL6A3): c.1791C> A (p.Phe597Leu) single nucleotide variant Uncertain significance 2:238289664-238289664 2:237381021-237381021
890 COL6A3 NM_004369.3(COL6A3): c.1735G> A (p.Ala579Thr) single nucleotide variant Uncertain significance 2:238289720-238289720 2:237381077-237381077
891 COL6A3 NM_004369.3(COL6A3): c.1727G> A (p.Ser576Asn) single nucleotide variant Uncertain significance 2:238289728-238289728 2:237381085-237381085
892 COL6A3 NM_004369.3(COL6A3): c.764G> A (p.Ser255Asn) single nucleotide variant Uncertain significance 2:238296773-238296773 2:237388130-237388130
893 COL6A3 NM_004369.3(COL6A3): c.661G> A (p.Val221Met) single nucleotide variant Uncertain significance 2:238303278-238303278 2:237394635-237394635
894 COL6A3 NM_004369.3(COL6A3): c.611C> A (p.Thr204Asn) single nucleotide variant Uncertain significance 2:238303328-238303328 2:237394685-237394685
895 COL6A3 NM_004369.3(COL6A3): c.439G> A (p.Val147Ile) single nucleotide variant Uncertain significance 2:238303500-238303500 2:237394857-237394857
896 COL6A3 NM_004369.3(COL6A3): c.289C> T (p.Arg97Cys) single nucleotide variant Uncertain significance 2:238303650-238303650 2:237395007-237395007
897 COL6A3 NM_004369.3(COL6A3): c.262C> T (p.His88Tyr) single nucleotide variant Uncertain significance 2:238303677-238303677 2:237395034-237395034
898 COL6A3 NM_004369.3(COL6A3): c.260C> G (p.Pro87Arg) single nucleotide variant Uncertain significance 2:238303679-238303679 2:237395036-237395036
899 COL6A3 NM_004369.3(COL6A3): c.253G> A (p.Gly85Arg) single nucleotide variant Uncertain significance 2:238303686-238303686 2:237395043-237395043
900 COL6A3 NM_004369.3(COL6A3): c.98A> G (p.Lys33Arg) single nucleotide variant Uncertain significance 2:238303841-238303841 2:237395198-237395198
901 COL6A1 NM_001848.2(COL6A1): c.903+4C> T single nucleotide variant Uncertain significance 21:47409570-47409570 21:45989656-45989656
902 COL6A1 NM_001848.2(COL6A1): c.931-6C> A single nucleotide variant Uncertain significance 21:47410166-47410166 21:45990252-45990252
903 COL6A2 NM_001849.3(COL6A2): c.1396-26_1396-10del deletion Uncertain significance 21:47540949-47540965 21:46121035-46121051
904 COL6A2 NM_001849.3(COL6A2): c.2982C> T (p.Ala994=) single nucleotide variant Likely benign rs145460820 21:47552388-47552388 21:46132474-46132474
905 COL6A3 NM_004369.3(COL6A3): c.8007C> T (p.His2669=) single nucleotide variant Likely benign rs528369978 2:238249552-238249552 2:237340909-237340909
906 COL6A1 NM_001848.2(COL6A1): c.1776C> T (p.Asp592=) single nucleotide variant Likely benign rs148439285 21:47419606-47419606 21:45999692-45999692
907 COL6A2 NM_001849.3(COL6A2): c.1129C> T (p.Arg377Cys) single nucleotide variant Likely benign rs144801620 21:47538540-47538540 21:46118626-46118626
908 COL6A3 NM_004369.3(COL6A3): c.8804C> T (p.Ala2935Val) single nucleotide variant Likely benign rs36020669 2:238244939-238244939 2:237336296-237336296
909 COL6A1 NM_001848.2(COL6A1): c.997G> A (p.Val333Met) single nucleotide variant Likely benign rs201525908 21:47410331-47410331 21:45990417-45990417
910 COL6A2 NM_001849.3(COL6A2): c.2600G> A (p.Arg867Gln) single nucleotide variant Likely benign rs61735831 21:47552006-47552006 21:46132092-46132092
911 COL6A2 NM_001849.3(COL6A2): c.2607C> T (p.Asp869=) single nucleotide variant Likely benign rs150219725 21:47552013-47552013 21:46132099-46132099
912 COL6A2 NM_001849.3(COL6A2): c.2599C> T (p.Arg867Trp) single nucleotide variant Likely benign rs144484744 21:47552005-47552005 21:46132091-46132091
913 COL6A3 NM_004369.3(COL6A3): c.958G> A (p.Ala320Thr) single nucleotide variant Likely benign rs115819851 2:238296579-238296579 2:237387936-237387936
914 COL6A3 NM_004369.3(COL6A3): c.7779C> T (p.Ile2593=) single nucleotide variant Likely benign rs144249704 2:238249780-238249780 2:237341137-237341137
915 COL6A1 NM_001848.2(COL6A1): c.981C> T (p.Ile327=) single nucleotide variant Likely benign rs138401567 21:47410315-47410315 21:45990401-45990401
916 COL6A3 NM_004369.3(COL6A3): c.4217C> T (p.Thr1406Met) single nucleotide variant Likely benign rs114061998 2:238280443-238280443 2:237371800-237371800
917 COL6A3 NM_004369.3(COL6A3): c.3446G> A (p.Arg1149Gln) single nucleotide variant Likely benign rs36062562 2:238283288-238283288 2:237374645-237374645
918 COL6A1 NM_001848.2(COL6A1): c.2469G> A (p.Thr823=) single nucleotide variant Likely benign rs146662894 21:47423309-47423309 21:46003395-46003395
919 COL6A2 NM_001849.3(COL6A2): c.2462-5dupC duplication Likely benign rs797044699 21:47551863-47551863 21:46131949-46131949
920 COL6A2 NM_001849.3(COL6A2): c.1969+10G> C single nucleotide variant Likely benign rs201259184 21:47545541-47545541 21:46125627-46125627
921 COL6A1 NM_001848.2(COL6A1): c.2022G> A (p.Val674=) single nucleotide variant Likely benign rs764099825 21:47421940-47421940 21:46002026-46002026
922 COL6A1 NM_001848.2(COL6A1): c.678G> A (p.Glu226=) single nucleotide variant Likely benign rs1370178953 21:47406947-47406947 21:45987033-45987033
923 COL6A1 NM_001848.2(COL6A1): c.105C> G (p.Pro35=) single nucleotide variant Likely benign rs145579577 21:47402555-47402555 21:45982641-45982641
924 COL6A1 NM_001848.2(COL6A1): c.2348G> A (p.Arg783Gln) single nucleotide variant Likely benign rs200261890 21:47422538-47422538 21:46002624-46002624
925 COL6A3 NM_004369.3(COL6A3): c.1024G> A (p.Val342Met) single nucleotide variant Likely benign rs111402193 2:238296513-238296513 2:237387870-237387870
926 COL6A3 NM_004369.3(COL6A3): c.4399A> G (p.Asn1467Asp) single nucleotide variant Likely benign rs138049094 2:238277707-238277707 2:237369064-237369064
927 COL6A3 NM_004369.3(COL6A3): c.624C> T (p.Asp208=) single nucleotide variant Likely benign rs757316338 2:238303315-238303315 2:237394672-237394672
928 COL6A3 NM_004369.3(COL6A3): c.3498C> A (p.Gly1166=) single nucleotide variant Likely benign rs1553560457 2:238283236-238283236 2:237374593-237374593
929 COL6A3 NM_004369.3(COL6A3): c.3071-7C> T single nucleotide variant Likely benign rs370229367 2:238283670-238283670 2:237375027-237375027
930 COL6A3 NM_004369.3(COL6A3): c.6654G> T (p.Pro2218=) single nucleotide variant Likely benign rs147537071 2:238262020-238262020 2:237353377-237353377
931 COL6A3 NM_004369.3(COL6A3): c.7212C> T (p.Ala2404=) single nucleotide variant Likely benign rs1162382032 2:238253449-238253449 2:237344806-237344806
932 COL6A3 NM_004369.3(COL6A3): c.6129C> T (p.Arg2043=) single nucleotide variant Likely benign rs576524993 2:238270409-238270409 2:237361766-237361766
933 COL6A3 NM_004369.3(COL6A3): c.6528C> T (p.Leu2176=) single nucleotide variant Likely benign rs560225578 2:238266469-238266469 2:237357826-237357826
934 COL6A3 NM_004369.3(COL6A3): c.4617G> A (p.Gly1539=) single nucleotide variant Likely benign rs1420997887 2:238277489-238277489 2:237368846-237368846
935 COL6A3 NM_004369.3(COL6A3): c.1149C> T (p.Ala383=) single nucleotide variant Likely benign rs139016980 2:238296388-238296388 2:237387745-237387745
936 COL6A3 NM_004369.3(COL6A3): c.186A> G (p.Leu62=) single nucleotide variant Likely benign rs773733833 2:238303753-238303753 2:237395110-237395110
937 COL6A1 NM_001848.2(COL6A1): c.2352C> T (p.Pro784=) single nucleotide variant Likely benign rs377558756 21:47422542-47422542 21:46002628-46002628
938 COL6A1 NM_001848.2(COL6A1): c.2751C> T (p.Asn917=) single nucleotide variant Likely benign rs767760988 21:47423591-47423591 21:46003677-46003677
939 COL6A2 NM_001849.3(COL6A2): c.116-6C> T single nucleotide variant Likely benign rs761805565 21:47531887-47531887 21:46111973-46111973
940 COL6A2 NM_001849.3(COL6A2): c.714+10G> A single nucleotide variant Likely benign rs777394169 21:47532501-47532501 21:46112587-46112587
941 COL6A2 NM_001849.3(COL6A2): c.999+7G> A single nucleotide variant Likely benign rs199783099 21:47536735-47536735 21:46116821-46116821
942 COL6A2 NM_001849.3(COL6A2): c.2319C> T (p.Tyr773=) single nucleotide variant Likely benign rs377458657 21:47546048-47546048 21:46126134-46126134
943 COL6A2 NM_001849.3(COL6A2): c.1845C> T (p.Asp615=) single nucleotide variant Likely benign rs908989305 21:47545407-47545407 21:46125493-46125493
944 COL6A3 NM_004369.3(COL6A3): c.1614G> A (p.Thr538=) single nucleotide variant Likely benign rs535142787 2:238289841-238289841 2:237381198-237381198
945 COL6A1 NM_001848.2(COL6A1): c.717+9C> T single nucleotide variant Likely benign rs183868804 21:47406995-47406995 21:45987081-45987081
946 COL6A1 NM_001848.2(COL6A1): c.2157G> C (p.Pro719=) single nucleotide variant Likely benign rs377152990 21:47422222-47422222 21:46002308-46002308
947 COL6A1 NM_001848.2(COL6A1): c.813A> G (p.Arg271=) single nucleotide variant Likely benign rs748184568 21:47409006-47409006 21:45989092-45989092
948 COL6A2 NM_001849.3(COL6A2): c.1816+9C> T single nucleotide variant Likely benign rs1456625954 21:47545234-47545234 21:46125320-46125320
949 COL6A2 NM_001849.3(COL6A2): c.2994C> T (p.His998=) single nucleotide variant Likely benign rs376362856 21:47552400-47552400 21:46132486-46132486
950 COL6A1 NM_001848.2(COL6A1): c.1227G> A (p.Ala409=) single nucleotide variant Likely benign rs557250335 21:47412122-47412122 21:45992208-45992208
951 COL6A1 NM_001848.2(COL6A1): c.1029A> C (p.Pro343=) single nucleotide variant Likely benign rs1556425843 21:47410713-47410713 21:45990799-45990799
952 COL6A1 NM_001848.2(COL6A1): c.1047C> T (p.Pro349=) single nucleotide variant Likely benign rs202227298 21:47410731-47410731 21:45990817-45990817
953 COL6A2 NM_001849.3(COL6A2): c.1000-6C> T single nucleotide variant Likely benign rs761428568 21:47537308-47537308 21:46117394-46117394
954 COL6A2 NM_001849.3(COL6A2): c.1518C> T (p.Pro506=) single nucleotide variant Likely benign rs767192013 21:47541529-47541529 21:46121615-46121615
955 COL6A2 NM_001849.3(COL6A2): c.2235G> T (p.Arg745=) single nucleotide variant Likely benign rs773668391 21:47545964-47545964 21:46126050-46126050
956 COL6A2 NM_001849.3(COL6A2): c.2766G> A (p.Val922=) single nucleotide variant Likely benign rs557446829 21:47552172-47552172 21:46132258-46132258
957 COL6A2 NM_001849.3(COL6A2): c.2697G> A (p.Thr899=) single nucleotide variant Likely benign rs11554669 21:47552103-47552103 21:46132189-46132189
958 COL6A1 NM_001848.2(COL6A1): c.669C> T (p.Asp223=) single nucleotide variant Likely benign rs552000247 21:47406938-47406938 21:45987024-45987024
959 COL6A1 NM_001848.2(COL6A1): c.273G> A (p.Leu91=) single nucleotide variant Likely benign rs759821375 21:47404228-47404228 21:45984314-45984314
960 COL6A2 NM_001849.3(COL6A2): c.2238G> A (p.Ala746=) single nucleotide variant Likely benign rs535581551 21:47545967-47545967 21:46126053-46126053
961 COL6A3 NM_004369.3(COL6A3): c.7107C> T (p.Asn2369=) single nucleotide variant Likely benign rs1410340783 2:238253842-238253842 2:237345199-237345199
962 COL6A2 NM_001849.3(COL6A2): c.*56T> G single nucleotide variant Likely benign rs148337125 21:47552522-47552522 21:46132608-46132608
963 COL6A3 NM_004369.3(COL6A3): c.576G> A (p.Pro192=) single nucleotide variant Likely benign rs141560881 2:238303363-238303363 2:237394720-237394720
964 COL6A3 NM_004369.3(COL6A3): c.4116C> T (p.Asn1372=) single nucleotide variant Likely benign rs369620378 2:238280544-238280544 2:237371901-237371901
965 COL6A3 NM_004369.3(COL6A3): c.7266A> C (p.Arg2422=) single nucleotide variant Likely benign rs778691629 2:238253395-238253395 2:237344752-237344752
966 COL6A3 NM_004369.3(COL6A3): c.5877G> C (p.Leu1959=) single nucleotide variant Likely benign rs752905591 2:238273033-238273033 2:237364390-237364390
967 COL6A3 NM_004369.3(COL6A3): c.3654G> A (p.Pro1218=) single nucleotide variant Likely benign rs778039312 2:238283080-238283080 2:237374437-237374437
968 COL6A3 NM_004369.3(COL6A3): c.9045C> T (p.Pro3015=) single nucleotide variant Likely benign rs144834964 2:238243453-238243453 2:237334810-237334810
969 COL6A3 NM_004369.3(COL6A3): c.4110C> T (p.Ala1370=) single nucleotide variant Likely benign rs1553559241 2:238280550-238280550 2:237371907-237371907
970 COL6A3 NM_004369.3(COL6A3): c.1566C> A (p.Ala522=) single nucleotide variant Likely benign rs771948237 2:238289889-238289889 2:237381246-237381246
971 COL6A3 NM_004369.3(COL6A3): c.5770G> A (p.Val1924Ile) single nucleotide variant Likely benign rs778162038 2:238274409-238274409 2:237365766-237365766
972 COL6A3 NM_004369.3(COL6A3): c.984C> T (p.Phe328=) single nucleotide variant Likely benign rs768609958 2:238296553-238296553 2:237387910-237387910
973 COL6A3 NM_004369.3(COL6A3): c.2517G> A (p.Leu839=) single nucleotide variant Likely benign rs187237497 2:238285968-238285968 2:237377325-237377325
974 COL6A3 NM_004369.3(COL6A3): c.1312+7A> G single nucleotide variant Likely benign rs949869773 2:238296218-238296218 2:237387575-237387575
975 COL6A2 NM_001849.3(COL6A2): c.129C> T (p.Cys43=) single nucleotide variant Likely benign rs755324001 21:47531906-47531906 21:46111992-46111992
976 COL6A1 NM_001848.2(COL6A1): c.984C> T (p.Asp328=) single nucleotide variant Likely benign rs781038607 21:47410318-47410318 21:45990404-45990404
977 COL6A1 NM_001848.2(COL6A1): c.1462-8C> T single nucleotide variant Likely benign rs199849694 21:47417606-47417606 21:45997692-45997692
978 COL6A3 NM_004369.3(COL6A3): c.3117C> T (p.Gly1039=) single nucleotide variant Likely benign rs922629653 2:238283617-238283617 2:237374974-237374974
979 COL6A1 NM_001848.2(COL6A1): c.162C> T (p.Pro54=) single nucleotide variant Likely benign rs775062782 21:47402612-47402612 21:45982698-45982698
980 COL6A3 NM_004369.3(COL6A3): c.1833C> T (p.Ala611=) single nucleotide variant Likely benign rs368242683 2:238289622-238289622 2:237380979-237380979
981 COL6A2 NM_001849.3(COL6A2): c.2713C> T (p.Leu905=) single nucleotide variant Likely benign rs753611948 21:47552119-47552119 21:46132205-46132205
982 COL6A2 NM_001849.3(COL6A2): c.2462-5C> T single nucleotide variant Likely benign rs760890154 21:47551863-47551863 21:46131949-46131949
983 COL6A2 NM_001849.3(COL6A2): c.624G> A (p.Pro208=) single nucleotide variant Likely benign rs146333253 21:47532401-47532401 21:46112487-46112487
984 COL6A2 NM_001849.3(COL6A2): c.978G> A (p.Lys326=) single nucleotide variant Likely benign rs1480541163 21:47536707-47536707 21:46116793-46116793
985 COL6A2 NM_001849.3(COL6A2): c.1671+9_1671+10inv inversion Likely benign 21:47542860-47542861 21:46122946-46122947
986 COL6A2 NM_001849.3(COL6A2): c.333G> A (p.Pro111=) single nucleotide variant Likely benign rs370531466 21:47532110-47532110 21:46112196-46112196
987 COL6A1 NM_001848.2(COL6A1): c.69G> A (p.Pro23=) single nucleotide variant Likely benign rs149741299 21:47401833-47401833 21:45981919-45981919
988 COL6A1 NM_001848.2(COL6A1): c.2067-6A> G single nucleotide variant Likely benign rs113876477 21:47422126-47422126 21:46002212-46002212
989 COL6A1 NM_001848.2(COL6A1): c.3034C> T (p.Leu1012=) single nucleotide variant Likely benign rs150509473 21:47423874-47423874 21:46003960-46003960
990 COL6A1 NM_001848.2(COL6A1): c.2434+15_2434+54del deletion Benign/Likely benign rs1064795349 21:47422639-47422678 21:46002725-46002764
991 COL6A2 NM_001849.3(COL6A2): c.2856G> A (p.Thr952=) single nucleotide variant Benign/Likely benign rs138074469 21:47552262-47552262 21:46132348-46132348
992 COL6A3 NM_004369.3(COL6A3): c.3456C> T (p.Ser1152=) single nucleotide variant Benign/Likely benign rs112815265 2:238283278-238283278 2:237374635-237374635
993 COL6A2 NM_001849.3(COL6A2): c.2503G> A (p.Val835Ile) single nucleotide variant Benign/Likely benign rs117668143 21:47551909-47551909 21:46131995-46131995
994 COL6A3 NM_004369.3(COL6A3): c.3054C> T (p.Asn1018=) single nucleotide variant Benign/Likely benign rs34367758 2:238285431-238285431 2:237376788-237376788
995 COL6A3 NM_004369.3(COL6A3): c.6156+4C> T single nucleotide variant Benign/Likely benign rs111228504 2:238270378-238270378 2:237361735-237361735
996 COL6A3 NM_004369.3(COL6A3): c.4683G> A (p.Gln1561=) single nucleotide variant Benign/Likely benign rs113074898 2:238277423-238277423 2:237368780-237368780
997 COL6A3 NM_004369.3(COL6A3): c.4727G> A (p.Arg1576Gln) single nucleotide variant Benign/Likely benign rs61729839 2:238277379-238277379 2:237368736-237368736
998 COL6A3 NM_004369.3(COL6A3): c.4895G> A (p.Arg1632Gln) single nucleotide variant Benign/Likely benign rs111231885 2:238277211-238277211 2:237368568-237368568
999 COL6A3 NM_004369.3(COL6A3): c.5059C> T (p.Pro1687Ser) single nucleotide variant Benign/Likely benign rs35273032 2:238275771-238275771 2:237367128-237367128
1000 COL6A3 NM_004369.3(COL6A3): c.5100G> A (p.Arg1700=) single nucleotide variant Benign/Likely benign rs34340053 2:238275730-238275730 2:237367087-237367087
1001 COL6A3 NM_004369.3(COL6A3): c.5261A> G (p.Lys1754Arg) single nucleotide variant Benign/Likely benign rs77632596 2:238275569-238275569 2:237366926-237366926
1002 COL6A3 NM_004369.3(COL6A3): c.3088G> A (p.Val1030Met) single nucleotide variant Benign/Likely benign rs116238578 2:238283646-238283646 2:237375003-237375003
1003 COL6A3 NM_004369.3(COL6A3): c.3191G> A (p.Arg1064Gln) single nucleotide variant Benign/Likely benign rs112638391 2:238283543-238283543 2:237374900-237374900
1004 COL6A3 NM_004369.3(COL6A3): c.3420G> A (p.Thr1140=) single nucleotide variant Benign/Likely benign rs35489467 2:238283314-238283314 2:237374671-237374671
1005 COL6A3 NM_004369.3(COL6A3): c.4090G> A (p.Val1364Met) single nucleotide variant Benign/Likely benign rs35524572 2:238280570-238280570 2:237371927-237371927
1006 COL6A3 NM_004369.3(COL6A3): c.4107C> T (p.Ile1369=) single nucleotide variant Benign/Likely benign rs35114079 2:238280553-238280553 2:237371910-237371910
1007 COL6A3 NM_004369.3(COL6A3): c.4184G> A (p.Arg1395Gln) single nucleotide variant Benign/Likely benign rs80272723 2:238280476-238280476 2:237371833-237371833
1008 COL6A3 NM_004369.3(COL6A3): c.4285+9G> A single nucleotide variant Benign/Likely benign rs75780727 2:238280366-238280366 2:237371723-237371723
1009 COL6A3 NM_004369.3(COL6A3): c.6211-3C> T single nucleotide variant Benign/Likely benign rs139622600 2:238268805-238268805 2:237360162-237360162
1010 COL6A3 NM_004369.3(COL6A3): c.730A> G (p.Ile244Val) single nucleotide variant Benign/Likely benign rs116729313 2:238296807-238296807 2:237388164-237388164
1011 COL6A3 NM_004369.3(COL6A3): c.6972C> T (p.Asn2324=) single nucleotide variant Benign/Likely benign rs113961575 2:238256507-238256507 2:237347864-237347864
1012 COL6A3 NM_004369.3(COL6A3): c.6981A> G (p.Glu2327=) single nucleotide variant Benign/Likely benign rs35993209 2:238256498-238256498 2:237347855-237347855
1013 COL6A3 NM_004369.3(COL6A3): c.7086A> C (p.Gly2362=) single nucleotide variant Benign/Likely benign rs35902696 2:238255152-238255152 2:237346509-237346509
1014 COL6A3 NM_004369.3(COL6A3): c.7400C> T (p.Ser2467Leu) single nucleotide variant Benign/Likely benign rs111803773 2:238253261-238253261 2:237344618-237344618
1015 COL6A3 NM_004369.3(COL6A3): c.7509G> A (p.Arg2503=) single nucleotide variant Benign/Likely benign rs34181055 2:238253152-238253152 2:237344509-237344509
1016 COL6A3 NM_004369.3(COL6A3): c.1182C> T (p.Thr394=) single nucleotide variant Benign/Likely benign rs114750216 2:238296355-238296355 2:237387712-237387712
1017 COL6A3 NM_004369.3(COL6A3): c.1231C> G (p.Leu411Val) single nucleotide variant Benign/Likely benign rs113716915 2:238296306-238296306 2:237387663-237387663
1018 COL6A3 NM_004369.3(COL6A3): c.1264G> A (p.Val422Met) single nucleotide variant Benign/Likely benign rs114511558 2:238296273-238296273 2:237387630-237387630
1019 COL6A3 NM_004369.3(COL6A3): c.1389C> T (p.Ala463=) single nucleotide variant Benign/Likely benign rs112896869 2:238290066-238290066 2:237381423-237381423
1020 COL6A3 NM_004369.3(COL6A3): c.1471G> C (p.Asp491His) single nucleotide variant Benign/Likely benign rs112010940 2:238289984-238289984 2:237381341-237381341
1021 COL6A3 NM_004369.3(COL6A3): c.1475C> G (p.Thr492Ser) single nucleotide variant Benign/Likely benign rs113897824 2:238289980-238289980 2:237381337-237381337
1022 COL6A3 NM_004369.3(COL6A3): c.1638C> T (p.Ala546=) single nucleotide variant Benign/Likely benign rs112040282 2:238289817-238289817 2:237381174-237381174
1023 COL6A2 NM_001849.3(COL6A2): c.832G> A (p.Glu278Lys) single nucleotide variant Benign/Likely benign rs61735835 21:47535816-47535816 21:46115902-46115902
1024 COL6A3 NM_004369.3(COL6A3): c.1786G> T (p.Ala596Ser) single nucleotide variant Benign/Likely benign rs34934127 2:238289669-238289669 2:237381026-237381026
1025 COL6A3 NM_004369.3(COL6A3): c.1976G> A (p.Arg659His) single nucleotide variant Benign/Likely benign rs36092870 2:238287800-238287800 2:237379157-237379157
1026 COL6A2 NM_001849.3(COL6A2): c.2351G> A (p.Arg784His) single nucleotide variant Benign/Likely benign rs75120695 21:47546080-47546080 21:46126166-46126166
1027 COL6A1 NM_001848.2(COL6A1): c.645G> A (p.Ala215=) single nucleotide variant Benign/Likely benign rs115292913 21:47406914-47406914 21:45987000-45987000
1028 COL6A2 NM_001849.3(COL6A2): c.2136C> T (p.Asp712=) single nucleotide variant Benign/Likely benign rs114554195 21:47545865-47545865 21:46125951-46125951
1029 COL6A2 NM_001849.3(COL6A2): c.2160C> G (p.Arg720=) single nucleotide variant Benign/Likely benign rs61735829 21:47545889-47545889 21:46125975-46125975
1030 COL6A2 NM_001849.3(COL6A2): c.2610C> T (p.Asp870=) single nucleotide variant Benign/Likely benign rs116817879 21